PMP70

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).

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.

Ubiquitinated by PEX2 during pexophagy in response to starvation, leading to its degradation.

Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.

• Peroxisome membrane
• Multi-pass membrane protein

PMP70, PXMP1, ABCD3, ATP-binding cassette sub-family D member 3, 70 kDa peroxisomal membrane protein

• entrezGene:5825
• omim:170995
• swissprot:P28288

Proteins

Neuroscience

75476Da