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Gene : ABCD1 Homo sapiens

Name  ? ATP binding cassette subfamily D member 1 Cytological Location  Xq28
Brief Description  ATP binding cassette subfamily D member 1
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 is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ABCD1,
  • ATP-binding cassette, sub-family D (ALD), member 1,
  • AMN,
  • AMN,
  • OTTHUMG00000024215,
  • adrenoleukodystrophy,
  • ALDP,
  • ALDP,
  • ALD,
  • uc004fif.2,
  • Z21876,
  • HGNC:61,
  • ABC42,
  • NM_000033,
  • ALD
  • identifiers:
  • 215,
  • ENSG00000101986,
  • ABCD1

Genome feature

Region: gene ? Length: 19905  
Location: X:153724851-153744755 Cyto location: Xq28

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



910 SNPs

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results