ABCD2

GENE INFORMATION

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Gene name

ABCD2 (HGNC Symbol)

Synonyms

ALDL1, ALDR, ALDRP

Description

ATP-binding cassette, sub-family D (ALD), member 2 (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. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]

Chromosome

12 (Chromosome progress)

Cytoband

q12

Chromosome location (bp)

39943835 - 40013553

Ensembl

ENSG00000173208 (version 73.37)

Entrez gene

225

UniProt

Q9UBJ2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBJ2

Antibodypedia

ABCD2 antibodies
 

PROTEIN VIEW

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ABCD2-001
 
 
 
 
 

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)

ABCD2-001 ENSP00000310688
ENST00000308666
Q9UBJ2
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