ABCD3
Function
Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation (PubMed:11248239, PubMed:24333844, PubMed:25168382, PubMed:29397936). Has fatty acyl-CoA thioesterase and ATPase activities (PubMed:29397936). Probably hydrolyzes fatty acyl-CoAs into free fatty acids prior to their ATP-dependent transport into peroxisomes (By similarity). Thus, play a role in regulation of LCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:24333844, PubMed:25944712).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by PEX2 during pexophagy in response to starvation, leading to its degradation.
Sequence Similarities
Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Cellular localization
- Peroxisome membrane
- Multi-pass membrane protein
Alternative names
PMP70, PXMP1, ABCD3, ATP-binding cassette sub-family D member 3, 70 kDa peroxisomal membrane protein