PMP70 ist ein Gen, das durch das Symbol ABCD3 kodiert wird. Im Allgemeinen auch bezeichnet als: ATP-binding cassette sub-family D member 3; 70 kDa peroxisomal membrane protein; ABCD3; PXMP1. PMP70 hat eine Masse von 75.48kDa, eine Aminosäurelänge von 659, und ist an Congenital bile acid synthesis defect 5 beteiligt.
Wir bieten 4 antikörper gegen PMP70, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Congenital bile acid synthesis defect 5: An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.
Sequenzähnlichkeiten
Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Zellort
Peroxisome membrane.
