Girish Mahajan

ABCD3

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Species  Human
Entrez  5825
Human  Mouse
Ensembl  ENSG00000117528
ABCD3
Aliases  ABCD3, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
External IDs  MGI: 1349216 HomoloGene: 2140 GeneCards: ABCD3

ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.

Contents

Function

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.

Clinical significance

Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.

Interactions

ABCD3 has been shown to interact with PEX19.

References

ABCD3 Wikipedia


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