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Gene : ABCA8 Homo sapiens

Name  ? ATP binding cassette subfamily A member 8 Cytological Location  17q24.2
Brief Description  ATP binding cassette subfamily A member 8
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. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
  • synonyms:
  • HGNC:38,
  • KIAA0822,
  • NM_007168,
  • ABCA8,
  • OTTHUMG00000180192,
  • uc002jhq.5,
  • AB020629,
  • ATP-binding cassette, sub-family A (ABC1), member 8
  • identifiers:
  • 10351,
  • ENSG00000141338,
  • ABCA8

Genome feature

Region: gene ? Length: 88142  
Location: 17:68867285-68955426 reverse strand Cyto location: 17q24.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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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Interactions

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Expression

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

Gene Ontology

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Other

3756 SN Ps

4 Cross References

16 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results