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PMP70

Function

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).

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.

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

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

Target type

Proteins

Molecular weight

75476Da