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PMP70 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.
Gene Name: | ATP-binding cassette, sub-family D (ALD), member 3 |
Family/Subfamily: | Transporter , ATP-binding cassette - ABCD/ALD |
Synonyms: | ABCD3, ABC43, PMP70, PXMP1, ZWS2, Peroxisomal membrane protein 1, PMP68 |
Target Sequences: | NM_002858 NP_002849.1 P28288 |
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