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Gene : ABCD2 Homo sapiens

Name  ? ATP binding cassette subfamily D member 2 Cytological Location  12q12
Brief Description  ATP binding cassette subfamily D member 2
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. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc001rmb.3,
  • ALDL1,
  • ALDR,
  • ALDRP,
  • ALDRP,
  • ALDL1,
  • NM_005164,
  • ATP-binding cassette, sub-family D (ALD), member 2,
  • U28150,
  • HGNC:66,
  • ABC39,
  • OTTHUMG00000169337,
  • hALDR,
  • ABCD2,
  • ALDR
  • identifiers:
  • 225,
  • ENSG00000173208,
  • ABCD2

Genome feature

Region: gene ? Length: 120369  
Location: 12:39530965-39651333 reverse strand Cyto location: 12q12


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Disease

0 Diseases

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522 SN Ps

5 Cross References

16 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results