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Gene : ABCA1 Homo sapiens

Name  ? ATP binding cassette subfamily A member 1 Cytological Location  9q31.1
Brief Description  ATP binding cassette subfamily A member 1
Description  The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
  • synonyms:
  • OTTHUMG00000020417,
  • Tangier disease,
  • HDLDT1,
  • ATP-binding cassette, sub-family A (ABC1), member 1,
  • ABC1,
  • CERP,
  • ABCA1,
  • ABC-1,
  • TGD,
  • ABC1,
  • HDLCQTL13,
  • TGD,
  • HGNC:29,
  • HPALP1,
  • AJ012376,
  • NM_005502,
  • uc004bcl.4,
  • HDLDT1
  • identifiers:
  • 19,
  • ENSG00000165029,
  • ABCA1

Genome feature

Region: gene ? Length: 147227  
Location: 9:104781006-104928232 reverse strand Cyto location: 9q31.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

125 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results