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abcd3

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Official Full Name
ATP-binding cassette, sub-family D (ALD), member 3
Background
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.
Synonyms
ABCD3; ATP-binding cassette, sub-family D (ALD), member 3; PXMP1; ATP-binding cassette sub-family D member 3; PMP70; ZWS2; 70 kDa peroxisomal membrane protein; ABC 43; ABC D3; ABC43; ABCD 3; ABCD3 protein; ABCD3_HUMAN; ATP binding cassette sub family D (ALD) member 3; ATP binding cassette sub family D member 3; Peroxisomal membrane protein 1; PMP 70; PXMP 1; Peroxisomal membrane protein-1 (70kD); peroxisomal membrane protein 1 (70kD, Zellweger syndrome); dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1)); ATP-binding cassette, sub-family D, member 3