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Gene : ABCD3 Homo sapiens

Name  ? ATP binding cassette subfamily D member 3 Cytological Location  1p21.3
Brief Description  ATP binding cassette subfamily D member 3
Description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ATP-binding cassette, sub-family D (ALD), member 3,
  • M81182,
  • CBAS5,
  • HGNC:67,
  • OTTHUMG00000010717,
  • PMP70,
  • ZWS2,
  • uc001dqn.5,
  • PXMP1,
  • ZWS2,
  • PMP70,
  • ABC43,
  • NM_002858,
  • ABCD3,
  • PXMP1
  • identifiers:
  • 5825,
  • ENSG00000117528,
  • ABCD3

Genome feature

Region: gene ? Length: 100578  
Location: 1:94418086-94518663 Cyto location: 1p21.3


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results