ABCD3

GENE INFORMATION

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Gene name

ABCD3 (HGNC Symbol)

Synonyms

PMP70, PXMP1, ZWS2

Description

ATP-binding cassette, sub-family D (ALD), member 3 (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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Chromosome

1 (Chromosome progress)

Cytoband

p21.3

Chromosome location (bp)

94883933 - 94984222

Ensembl

ENSG00000117528 (version 73.37)

Entrez gene

5825

UniProt

P28288 (UniProt - Evidence at protein level)

neXtProt

NX_P28288

Antibodypedia

ABCD3 antibodies
 

PROTEIN VIEW

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ABCD3-001
 
ABCD3-002
 
ABCD3-201
 
ABCD3-202
 
ABCD3-203
 
 
 
 
 

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)

ABCD3-001 ENSP00000359233
ENST00000370214
P28288
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Show » Show » 659 75.5 No 5
ABCD3-002 ENSP00000326880
ENST00000315713
P28288
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Show » Show » 236 27.1 No 3
ABCD3-201 ENSP00000377780
ENST00000394233
P28288
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Show » Show » 549 62.7 No 3
ABCD3-202 ENSP00000403357
ENST00000454898
E7EUE1
Show all »
Show » Show » 683 78.4 No 5
ABCD3-203 ENSP00000440692
ENST00000536817
F5GYC1
Show all »
Show » Show » 586 67.3 No 5