ID ALD_HUMAN STANDARD; PRT; 745 AA.
AC P33897;
DT 01-FEB-1994 (Rel. 28, Created)
DT 01-FEB-1994 (Rel. 28, Last sequence update)
DT 15-JUN-2004 (Rel. 44, Last annotation update)
DE Adrenoleukodystrophy protein (ALDP).
GN ABCD1 OR ALD.
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP SEQUENCE FROM N.A.
RX MEDLINE=93180910; PubMed=8441467;
RA Mosser J., Douar A.-M., Sarde C.-O., Kioschis P., Feil R., Moser H.,
RA Poustka A.-M., Mandel J.-L., Aubourg P.;
RT "Putative X-linked adrenoleukodystrophy gene shares unexpected
RT homology with ABC transporters.";
RL Nature 361:726-730(1993).
RN [2]
RP SEQUENCE FROM N.A.
RA Platzer M., Bauer D., Brenner V., Drescher B., Nyakatura G.,
RA Reichwald K., Sandoval N., Coy J., Kioschis P., Korn B.,
RA Poustka A.-M., Rosenthal A.;
RL Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP SUBUNITS, AND CHARACTERIZATION OF VARIANTS X-ALD HIS-389; GLN-401;
RP ARG-484 AND GLN-591.
RX MEDLINE=20020240; PubMed=10551832;
RA Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R.,
RA Aubourg P.;
RT "Homo- and heterodimerization of peroxisomal ATP-binding cassette
RT half-transporters.";
RL J. Biol. Chem. 274:32738-32743(1999).
RN [4]
RP FUNCTION, AND CHARACTERIZATION OF VARIANTS X-ALD SER-512 AND LEU-606.
RX MEDLINE=21145507; PubMed=11248239;
RA Roerig P., Mayerhofer P., Holzinger A., Gaertner J.;
RT "Characterization and functional analysis of the nucleotide binding
RT fold in human peroxisomal ATP binding cassette transporters.";
RL FEBS Lett. 492:66-72(2001).
RN [5]
RP REVIEW.
RX MEDLINE=93283453; PubMed=8507690;
RA Aubourg P., Mosser J., Douar A.-M., Sarde C.-O., Lopez J.,
RA Mandel J.-L.;
RT "Adrenoleukodystrophy gene: unexpected homology to a protein involved
RT in peroxisome biogenesis.";
RL Biochimie 75:293-302(1993).
RN [6]
RP REVIEW ON VARIANTS.
RX MEDLINE=97338663; PubMed=9195223;
RA Dodd A., Rowland S.A., Hawkes S.L.J., Kennedy M.A., Love D.R.;
RT "Mutations in the adrenoleukodystrophy gene.";
RL Hum. Mutat. 9:500-511(1997).
RN [7]
RP REVIEW ON VARIANTS.
RX MEDLINE=21614879; PubMed=11748843;
RA Kemp S., Pujol A., Waterham H.R., van Geel B.M., Boehm C.D.,
RA Raymond G.V., Cutting G.R., Wanders R.J.A., Moser H.W.;
RT "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation
RT database: role in diagnosis and clinical correlations.";
RL Hum. Mutat. 18:499-515(2001).
RN [8]
RP VARIANT X-ALD LYS-291.
RX MEDLINE=94108454; PubMed=7904210;
RA Cartier N., Sarde C.-O., Douar A.-M., Mosser J., Mandel J.-L.,
RA Aubourg P.;
RT "Abnormal messenger RNA expression and a missense mutation in
RT patients with X-linked adrenoleukodystrophy.";
RL Hum. Mol. Genet. 2:1949-1951(1993).
RN [9]
RP VARIANTS X-ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND
RP PHE-515.
RX MEDLINE=95152524; PubMed=7849723;
RA Fuchs S., Sarde C.-O., Wedemann H., Schwinger E., Mandel J.-L.,
RA Gal A.;
RT "Missense mutations are frequent in the gene for X-chromosomal
RT adrenoleukodystrophy (ALD).";
RL Hum. Mol. Genet. 3:1903-1905(1994).
RN [10]
RP VARIANTS X-ALD TRP-518; LEU-606; CYS-617 AND HIS-617.
RX MEDLINE=94314951; PubMed=8040304;
RA Fanen P., Guidoux S., Sarde C.-O., Mandel J.-L., Goossens M.,
RA Aubourg P.;
RT "Identification of mutations in the putative ATP-binding domain of
RT the adrenoleukodystrophy gene.";
RL J. Clin. Invest. 94:516-520(1994).
RN [11]
RP VARIANTS X-ALD.
RX MEDLINE=95126139; PubMed=7825602;
RA Ligtenberg M.J.L., Kemp S., Sarde C.-O., van Geel B.M., Kleijer W.J.,
RA Barth P.G., Mandel J.-L., van Oost B.A., Bolhuis P.A.;
RT "Spectrum of mutations in the gene encoding the adrenoleukodystrophy
RT protein.";
RL Am. J. Hum. Genet. 56:44-50(1995).
RN [12]
RP VARIANTS X-ALD HIS-104; GLU-178; LEU-560 AND GLY-528 DEL.
RX MEDLINE=95233433; PubMed=7717396;
RA Braun A., Ambach H., Kammerer S., Rolinski B., Stoeckler S., Rabl W.,
RA Gaertner J., Zierz S., Roscher A.A.;
RT "Mutations in the gene for X-linked adrenoleukodystrophy in patients
RT with different clinical phenotypes.";
RL Am. J. Hum. Genet. 56:854-861(1995).
RN [13]
RP VARIANTS X-ALD.
RX MEDLINE=96047143; PubMed=7581394;
RA Kok F., Neumann S., Sarde C.-O., Zheng S., Wu K.-H., Wei H.-M.,
RA Bergin J., Watkins P.A., Gould S., Sack G., Moser H., Mandel J.-L.,
RA Smith K.D.;
RT "Mutational analysis of patients with X-linked adrenoleukodystrophy.";
RL Hum. Mutat. 6:104-115(1995).
RN [14]
RP VARIANTS X-ALD.
RX MEDLINE=96213748; PubMed=8651290;
RA Feigenbaum V., Lombard-Platet G., Guidoux S., Sarde C.-O.,
RA Mandel J.-L., Aubourg P.;
RT "Mutational and protein analysis of patients and heterozygous women
RT with X-linked adrenoleukodystrophy.";
RL Am. J. Hum. Genet. 58:1135-1144(1996).
RN [15]
RP VARIANTS X-ALD.
RX MEDLINE=96163493; PubMed=8566952;
RA Krasemann E.W., Meier V., Korenke G.C., Hunneman D.H., Hanefeld F.;
RT "Identification of mutations in the ALD-gene of 20 families with
RT adrenoleukodystrophy/adrenomyeloneuropathy.";
RL Hum. Genet. 97:194-197(1996).
RN [16]
RP VARIANT X-ALD ARG-679.
RX MEDLINE=98112466; PubMed=9452087;
RA Korenke G.C., Krasemann E., Meier V., Beuche W., Hunneman D.H.,
RA Hanefeld F.;
RT "First missense mutation (W679R) in exon 10 of the
RT adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.";
RL Hum. Mutat. Suppl. 1:S204-S206(1998).
RN [17]
RP VARIANTS X-ALD.
RX MEDLINE=99408241; PubMed=10480364;
RA Wichers M., Kohler W., Brennemann W., Boese V., Sokolowski P.,
RA Bidlingmaier F., Ludwig M.;
RT "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene
RT mutations: no correlation between type of mutation and age of onset.";
RL Hum. Genet. 105:116-119(1999).
RN [18]
RP VARIANTS X-ALD LEU-108 AND SER-143.
RX MEDLINE=99299442; PubMed=10369742;
RA Perusi C., Gomez-Lira M., Mottes M., Pignatti P.F., Bertini E.,
RA Cappa M., Vigliani M.C., Schiffer D., Rizzuto N., Salviati A.;
RT "Two novel missense mutations causing adrenoleukodystrophy in Italian
RT patients.";
RL Mol. Cell. Probes 13:179-182(1999).
RN [19]
RP VARIANTS X-ALD.
RX MEDLINE=20202141; PubMed=10737980;
RA Lachtermacher M.B., Seuanez H.N., Moser A.B., Moser H.W., Smith K.D.;
RT "Determination of 30 X-linked adrenoleukodystrophy mutations,
RT including 15 not previously described.";
RL Hum. Mutat. 15:348-353(2000).
RN [20]
RP VARIANTS X-ALD GLN-401; TRP-418; LEU-543 AND ARG-556.
RX MEDLINE=20438355; PubMed=10980539;
RA Lira M.G., Mottes M., Pignatti P.F., Medica I., Uziel G., Cappa M.,
RA Bertini E., Rizzuto N., Salviati A.;
RT "Detection of mutations in the ALD gene (ABCD1) in seven Italian
RT families: description of four novel mutations.";
RL Hum. Mutat. 16:271-271(2000).
RN [21]
RP VARIANTS X-ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND
RP PRO-660, AND VARIANT THR-13.
RX MEDLINE=21331689; PubMed=11438993;
RA Dvorakova L., Storkanova G., Unterrainer G., Hujova J., Kmoch S.,
RA Zeman J., Hrebicek M., Berger J.;
RT "Eight novel ABCD1 gene mutations and three polymorphisms in patients
RT with X-linked adrenoleukodystrophy: the first polymorphism causing an
RT amino acid exchange.";
RL Hum. Mutat. 18:52-60(2001).
RN [22]
RP VARIANT X-ALD VAL-GLY-GLN-300 INS.
RX MEDLINE=21668186; PubMed=11810273; DOI=10.1007/s00439-001-0632-z;
RA Guimaraes C.P., Lemos M., Menezes I., Coelho T., Sa-Miranda C.,
RA Azevedo J.E.;
RT "Characterisation of two mutations in the ABCD1 gene leading to low
RT levels of normal ALDP.";
RL Hum. Genet. 109:616-622(2001).
RN [23]
RP INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME.
RX PubMed=11992258;
RA Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F.,
RA Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D.,
RA Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J.;
RT "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1)
RT and DXS1357E: a novel neonatal phenotype similar to peroxisomal
RT biogenesis disorders.";
RL Am. J. Hum. Genet. 70:1520-1531(2002).
CC -!- FUNCTION: Probable transporter. The nucleotide-binding fold acts
CC as an ATP-binding subunit with ATPase activity.
CC -!- SUBUNIT: Can form homo- and heterodimers with ABCD2/ALDR and
CC ABCD3/PMP70. Dimerization is necessary to form an active
CC transporter.
CC -!- SUBCELLULAR LOCATION: Integral membrane protein. Peroxisomal.
CC -!- DISEASE: Defects in ABCD1 are the cause of recessive X-linked
CC adrenoleukodystrophy (X-ALD) [MIM:300100]. X-ALD is a rare
CC peroxisomal metabolic disorder that occurs in boys and is
CC characterized by progressive multifocal demyelination of the
CC central nervous system and by adrenocortical insufficiency. It
CC produces mental deterioration, corticospinal tract dysfunction,
CC and cortical blindness. There is laboratory evidence of adrenal
CC cortical dysfunction. Different clinical manifestations exist
CC like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD),
CC adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO)
CC phenotype.
CC -!- DISEASE: Microdeletions in ABCD1 are involved in the contiguous
CC ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients
CC manifest profound neonatal hypotonia, subsequent failure to
CC thrive, and cholestatic liver disease.
CC -!- SIMILARITY: Belongs to the ABC transporter family. ALD subfamily.
CC -!- DATABASE: NAME=X-ALD gene mutation database;
CC WWW="http://www.x-ald.nl/".
CC --------------------------------------------------------------------------
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CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use by non-profit institutions as long as its content is in no way
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DR EMBL; Z21876; CAA79922.1; -.
DR EMBL; Z31348; CAA83230.1; -.
DR EMBL; Z31006; CAA83230.1; JOINED.
DR EMBL; Z31007; CAA83230.1; JOINED.
DR EMBL; Z31008; CAA83230.1; JOINED.
DR EMBL; Z31009; CAA83230.1; JOINED.
DR EMBL; Z31010; CAA83230.1; JOINED.
DR EMBL; U52111; -; NOT_ANNOTATED_CDS.
DR PIR; G02500; G02500.
DR Genew; HGNC:61; ABCD1.
DR MIM; 300371; -.
DR MIM; 300100; -.
DR MIM; 300475; -.
DR GO; GO:0005779; C:integral to peroxisomal membrane; NAS.
DR GO; GO:0004009; F:ATP-binding cassette (ABC) transporter acti...; NAS.
DR GO; GO:0005215; F:transporter activity; NAS.
DR GO; GO:0015919; P:peroxisomal membrane transport; NAS.
DR GO; GO:0007031; P:peroxisome organization and biogenesis; NAS.
DR InterPro; IPR003593; AAA_ATPase.
DR InterPro; IPR003439; ABC_transporter.
DR InterPro; IPR005283; FA_transporter.
DR Pfam; PF00005; ABC_tran; 1.
DR Pfam; PF06472; Ald_N; 1.
DR ProDom; PD000006; ABC_transporter; 1.
DR TIGRFAMs; TIGR00954; 3a01203; 1.
DR PROSITE; PS50929; ABC_TM1F; 1.
DR PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
DR PROSITE; PS50893; ABC_TRANSPORTER_2; 1.
KW ATP-binding; Glycoprotein; Transmembrane; Transport; Peroxisome;
KW Disease mutation; Polymorphism.
FT TRANSMEM 92 112 Potential.
FT TRANSMEM 131 151 Potential.
FT TRANSMEM 238 258 Potential.
FT TRANSMEM 333 353 Potential.
FT TRANSMEM 473 493 Potential.
FT NP_BIND 507 514 ATP (By similarity).
FT VARIANT 13 13 N -> T (very rare polymorphism; does not
FT affect ALDP function).
FT /FTId=VAR_013340.
FT VARIANT 90 90 E -> K (in X-ALD).
FT /FTId=VAR_009349.
FT VARIANT 98 98 S -> L (in X-ALD; CALD type).
FT /FTId=VAR_000024.
FT VARIANT 99 99 A -> D (in X-ALD; AMN-type).
FT /FTId=VAR_013341.
FT VARIANT 103 103 S -> R (in X-ALD).
FT /FTId=VAR_009350.
FT VARIANT 104 104 R -> C (in X-ALD).
FT /FTId=VAR_000025.
FT VARIANT 104 104 R -> H (in X-ALD; ADO-type).
FT /FTId=VAR_000026.
FT VARIANT 105 105 T -> I (in X-ALD; ADO-type).
FT /FTId=VAR_000027.
FT VARIANT 105 105 T -> P (in X-ALD).
FT /FTId=VAR_009351.
FT VARIANT 107 107 L -> P (in X-ALD; ALD/AMN/ADO-types and
FT asymptomatic).
FT /FTId=VAR_000028.
FT VARIANT 108 108 S -> L (in X-ALD).
FT /FTId=VAR_009352.
FT VARIANT 108 108 S -> W (in X-ALD; CALD and AMN-types).
FT /FTId=VAR_000029.
FT VARIANT 113 113 R -> C (in X-ALD).
FT /FTId=VAR_009353.
FT VARIANT 113 113 R -> P (in X-ALD).
FT /FTId=VAR_013342.
FT VARIANT 116 116 G -> R (in X-ALD; CALD-type).
FT /FTId=VAR_000030.
FT VARIANT 123 123 A -> V.
FT /FTId=VAR_000031.
FT VARIANT 138 141 Missing (in X-ALD; ALD-type).
FT /FTId=VAR_000032.
FT VARIANT 141 141 A -> T (in X-ALD).
FT /FTId=VAR_000033.
FT VARIANT 143 143 P -> S (in X-ALD).
FT /FTId=VAR_009354.
FT VARIANT 148 148 N -> S (in X-ALD; ADO-type).
FT /FTId=VAR_000034.
FT VARIANT 149 149 S -> N (in X-ALD).
FT /FTId=VAR_000035.
FT VARIANT 152 152 R -> C (in X-ALD; ADO-type).
FT /FTId=VAR_000036.
FT VARIANT 152 152 R -> L (in X-ALD).
FT /FTId=VAR_009355.
FT VARIANT 152 152 R -> P (in X-ALD).
FT /FTId=VAR_000037.
FT VARIANT 152 152 R -> S (in X-ALD).
FT /FTId=VAR_009356.
FT VARIANT 161 161 S -> P (in X-ALD).
FT /FTId=VAR_009357.
FT VARIANT 163 163 R -> H (in X-ALD).
FT /FTId=VAR_000038.
FT VARIANT 163 163 R -> P (in X-ALD).
FT /FTId=VAR_009358.
FT VARIANT 174 174 Y -> C (in X-ALD).
FT /FTId=VAR_009359.
FT VARIANT 174 174 Y -> D (in X-ALD; ALD-type).
FT /FTId=VAR_000039.
FT VARIANT 174 174 Y -> S (in X-ALD; CALD-type).
FT /FTId=VAR_000040.
FT VARIANT 178 178 Q -> E (in X-ALD; AMN-type).
FT /FTId=VAR_000041.
FT VARIANT 181 181 Y -> C (in X-ALD; ALMD-type).
FT /FTId=VAR_000042.
FT VARIANT 182 182 R -> P (in X-ALD).
FT /FTId=VAR_000043.
FT VARIANT 189 189 R -> W (in X-ALD).
FT /FTId=VAR_009360.
FT VARIANT 190 190 L -> P (in X-ALD).
FT /FTId=VAR_009361.
FT VARIANT 194 194 D -> H (in X-ALD).
FT /FTId=VAR_000044.
FT VARIANT 198 198 T -> K (in X-ALD).
FT /FTId=VAR_009362.
FT VARIANT 200 200 D -> N (in X-ALD).
FT /FTId=VAR_009363.
FT VARIANT 200 200 D -> V (in X-ALD; CALD-type).
FT /FTId=VAR_000045.
FT VARIANT 207 207 S -> SAAS (in X-ALD).
FT /FTId=VAR_013343.
FT VARIANT 211 211 L -> P (in X-ALD).
FT /FTId=VAR_000046.
FT VARIANT 213 213 S -> C (in X-ALD).
FT /FTId=VAR_009364.
FT VARIANT 214 214 N -> D (in X-ALD).
FT /FTId=VAR_009365.
FT VARIANT 217 217 K -> E (in X-ALD).
FT /FTId=VAR_013344.
FT VARIANT 218 218 P -> T (in X-ALD).
FT /FTId=VAR_009366.
FT VARIANT 220 220 L -> P (in X-ALD).
FT /FTId=VAR_000047.
FT VARIANT 221 221 D -> G (in X-ALD; CALD and AMN-types).
FT /FTId=VAR_000048.
FT VARIANT 224 224 V -> E (in X-ALD).
FT /FTId=VAR_013345.
FT VARIANT 229 229 L -> P (in X-ALD).
FT /FTId=VAR_009367.
FT VARIANT 254 254 T -> M (in X-ALD; AMN-type).
FT /FTId=VAR_000049.
FT VARIANT 254 254 T -> P (in X-ALD; AMN-type).
FT /FTId=VAR_000050.
FT VARIANT 263 263 P -> L (in X-ALD; CALD, AMN and AD-
FT typeS).
FT /FTId=VAR_000051.
FT VARIANT 266 266 G -> R (in X-ALD).
FT /FTId=VAR_000052.
FT VARIANT 271 271 E -> K (in X-ALD).
FT /FTId=VAR_009368.
FT VARIANT 274 274 R -> W (in X-ALD).
FT /FTId=VAR_013346.
FT VARIANT 276 276 K -> E (in X-ALD; CALD-type).
FT /FTId=VAR_000053.
FT VARIANT 277 277 G -> R (in X-ALD; AMN-type).
FT /FTId=VAR_000054.
FT VARIANT 277 277 G -> GN (in X-ALD; ADO-type).
FT /FTId=VAR_000055.
FT VARIANT 277 277 G -> W (in X-ALD).
FT /FTId=VAR_000056.
FT VARIANT 280 280 R -> C (in X-ALD).
FT /FTId=VAR_013347.
FT VARIANT 285 285 R -> P (in X-ALD).
FT /FTId=VAR_009369.
FT VARIANT 291 291 E -> D (in X-ALD; ACALD and CALD-types).
FT /FTId=VAR_000057.
FT VARIANT 291 291 E -> K (in X-ALD).
FT /FTId=VAR_000058.
FT VARIANT 291 291 Missing (in X-ALD; ALD-type).
FT /FTId=VAR_000059.
FT VARIANT 294 294 A -> T (in X-ALD; AMN-type).
FT /FTId=VAR_000060.
FT VARIANT 296 296 Y -> C (in X-ALD).
FT /FTId=VAR_009370.
FT VARIANT 298 298 G -> D (in X-ALD).
FT /FTId=VAR_009371.
FT VARIANT 300 300 E -> EVGQ (in X-ALD).
FT /FTId=VAR_013348.
FT VARIANT 302 302 E -> K (in X-ALD).
FT /FTId=VAR_009372.
FT VARIANT 322 322 L -> P (in X-ALD).
FT /FTId=VAR_009373.
FT VARIANT 336 336 K -> M (in X-ALD).
FT /FTId=VAR_009374.
FT VARIANT 339 339 W -> R (in X-ALD).
FT /FTId=VAR_013349.
FT VARIANT 342 342 S -> P (in X-ALD; AMN-type).
FT /FTId=VAR_000061.
FT VARIANT 343 343 G -> D (in X-ALD).
FT /FTId=VAR_013350.
FT VARIANT 389 389 R -> G (in X-ALD; AMN-type).
FT /FTId=VAR_000062.
FT VARIANT 389 389 R -> H (in X-ALD; does not affect protein
FT stability, homo- and heterodimerization
FT with ALDR and PMP70).
FT /FTId=VAR_000063.
FT VARIANT 401 401 R -> Q (in X-ALD; ALD and AMN-types; does
FT not affect protein stability, homo- and
FT heterodimerization with ALDR and PMP70).
FT /FTId=VAR_000064.
FT VARIANT 401 401 R -> W (in X-ALD).
FT /FTId=VAR_009375.
FT VARIANT 418 418 R -> W (in X-ALD; AMN-type).
FT /FTId=VAR_000065.
FT VARIANT 427 427 Missing (in X-ALD).
FT /FTId=VAR_013351.
FT VARIANT 484 484 P -> R (in X-ALD; CALD, AMN and ADO-
FT types; significantly decreases
FT homodimerization and abolishes
FT heterodimerization with ALDR and PMP70).
FT /FTId=VAR_000066.
FT VARIANT 507 507 G -> V (in X-ALD; CALD-types).
FT /FTId=VAR_000067.
FT VARIANT 512 512 G -> S (in X-ALD; CALD and AS-types;
FT reduced ATPase activity).
FT /FTId=VAR_000068.
FT VARIANT 515 515 S -> F (in X-ALD).
FT /FTId=VAR_000069.
FT VARIANT 518 518 R -> Q (in X-ALD; CALD-type).
FT /FTId=VAR_000070.
FT VARIANT 518 518 R -> W (in X-ALD; CALD-type).
FT /FTId=VAR_000071.
FT VARIANT 522 522 G -> W (in X-ALD; AD-type).
FT /FTId=VAR_000072.
FT VARIANT 528 528 Missing (in X-ALD; CALD-type).
FT /FTId=VAR_000073.
FT VARIANT 529 529 G -> S (in X-ALD).
FT /FTId=VAR_009376.
FT VARIANT 534 534 P -> L (in X-ALD; CALD-type).
FT /FTId=VAR_000074.
FT VARIANT 540 540 F -> S (in X-ALD).
FT /FTId=VAR_009377.
FT VARIANT 543 543 P -> L (in X-ALD).
FT /FTId=VAR_009378.
FT VARIANT 544 544 Q -> R (in X-ALD).
FT /FTId=VAR_009379.
FT VARIANT 552 552 S -> P (in X-ALD).
FT /FTId=VAR_009380.
FT VARIANT 554 554 R -> H (in X-ALD).
FT /FTId=VAR_009381.
FT VARIANT 556 556 Q -> R (in X-ALD; ACALD type).
FT /FTId=VAR_013352.
FT VARIANT 560 560 P -> L (in X-ALD; CALD-type).
FT /FTId=VAR_000075.
FT VARIANT 560 560 P -> R (in X-ALD; AMN and ALMD-types).
FT /FTId=VAR_000076.
FT VARIANT 560 560 P -> S (in X-ALD).
FT /FTId=VAR_013353.
FT VARIANT 566 566 M -> K (in X-ALD).
FT /FTId=VAR_000077.
FT VARIANT 591 591 R -> P (in X-ALD).
FT /FTId=VAR_013354.
FT VARIANT 591 591 R -> Q (in X-ALD; AMN-type; significantly
FT decreases homodimerization and abolishes
FT heterodimerization with ALDR and PMP70).
FT /FTId=VAR_000078.
FT VARIANT 591 591 R -> W (in X-ALD).
FT /FTId=VAR_009382.
FT VARIANT 606 606 S -> L (in X-ALD; decreased ATP-binding
FT affinity).
FT /FTId=VAR_000079.
FT VARIANT 606 606 S -> P (in X-ALD; CALD, AMN and ALMD-
FT types).
FT /FTId=VAR_000080.
FT VARIANT 608 608 G -> D (in X-ALD; CALD-type).
FT /FTId=VAR_013355.
FT VARIANT 609 609 E -> G (in X-ALD).
FT /FTId=VAR_000081.
FT VARIANT 609 609 E -> K (in X-ALD; AMN-type).
FT /FTId=VAR_000082.
FT VARIANT 616 616 A -> V (in X-ALD).
FT /FTId=VAR_009383.
FT VARIANT 617 617 R -> C (in X-ALD; ALD-type and
FT asymptomatic).
FT /FTId=VAR_000083.
FT VARIANT 617 617 R -> G (in X-ALD; ADO and AMN-types with
FT cerebral involvement).
FT /FTId=VAR_000084.
FT VARIANT 617 617 R -> H (in X-ALD).
FT /FTId=VAR_000085.
FT VARIANT 626 626 A -> D (in X-ALD).
FT /FTId=VAR_013356.
FT VARIANT 626 626 A -> T (in X-ALD; CALD and AMN-types).
FT /FTId=VAR_000086.
FT VARIANT 629 629 D -> H (in X-ALD).
FT /FTId=VAR_000087.
FT VARIANT 630 630 E -> G (in X-ALD).
FT /FTId=VAR_009384.
FT VARIANT 631 631 C -> Y (in X-ALD).
FT /FTId=VAR_009385.
FT VARIANT 632 632 T -> I (in X-ALD).
FT /FTId=VAR_013357.
FT VARIANT 633 633 S -> I (in X-ALD; asymptomatic).
FT /FTId=VAR_013358.
FT VARIANT 633 633 S -> R (in X-ALD).
FT /FTId=VAR_009386.
FT VARIANT 635 635 V -> M (in X-ALD).
FT /FTId=VAR_013359.
FT VARIANT 636 636 S -> I (in X-ALD).
FT /FTId=VAR_009387.
FT VARIANT 638 638 D -> Y (in X-ALD).
FT /FTId=VAR_009388.
FT VARIANT 646 646 A -> P (in X-ALD).
FT /FTId=VAR_009389.
FT VARIANT 654 654 L -> P (in X-ALD).
FT /FTId=VAR_009390.
FT VARIANT 657 657 Missing (in X-ALD; CALD-type).
FT /FTId=VAR_000088.
FT VARIANT 660 660 R -> P (in X-ALD; CALD-type).
FT /FTId=VAR_013360.
FT VARIANT 660 660 R -> W (in X-ALD; CALD, ALMD and AS-
FT types).
FT /FTId=VAR_000089.
FT VARIANT 667 667 H -> D (in X-ALD).
FT /FTId=VAR_009391.
FT VARIANT 668 668 T -> I (in X-ALD).
FT /FTId=VAR_009392.
FT VARIANT 679 679 W -> R (in X-ALD; AMN-type).
FT /FTId=VAR_000090.
FT VARIANT 693 693 T -> M (in X-ALD).
FT /FTId=VAR_009393.
SQ SEQUENCE 745 AA; 82908 MW; 13A8EFDE9EB1E7FA CRC64;
MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
CIARKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR
PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
GEAVAPAHVP APSPQGPGGL QGAST
//