ABCD3 gene

ATP binding cassette subfamily D member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).

From NCBI Gene:

  • Bile acid synthesis defect, congenital, 5

From UniProt:

Congenital bile acid synthesis defect 5 (CBAS5): An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. [MIM:616278]

Cytogenetic Location: 1p21.3, which is the short (p) arm of chromosome 1 at position 21.3

Molecular Location: base pairs 94,385,106 to 94,518,663 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p21.3, which is the short (p) arm of chromosome 1 at position 21.3
  • ABC43
  • CBAS5
  • PMP70
  • PXMP1
  • ZWS2