ABCD1

GENE INFORMATION

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Gene name

ABCD1 (HGNC Symbol)

Synonyms

adrenoleukodystrophy, ALD, ALDP, AMN

Description

ATP-binding cassette, sub-family D (ALD), member 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

152990323 - 153010216

Ensembl

ENSG00000101986 (version 73.37)

Entrez gene

215

UniProt

P33897 (UniProt - Evidence at protein level)

neXtProt

NX_P33897

Antibodypedia

ABCD1 antibodies
 

PROTEIN VIEW

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ABCD1-001
 
ABCD1-002
 
ABCD1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCD1-001 ENSP00000218104
ENST00000218104
P33897
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Show » Show » 745 82.9 Yes 5
ABCD1-002 ENSP00000413695
ENST00000443684
223 24.3 No 0
ABCD1-003 ENSP00000359147
ENST00000370129
A6NEP8
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Show » Show » 227 24.8 No 2