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Gene : ABCB8 Homo sapiens

Name  ? ATP binding cassette subfamily B member 8 Cytological Location  7q36.1
Brief Description  ATP binding cassette subfamily B member 8
Description  This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
  • synonyms:
  • MABC1,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 8,
  • M-ABC1,
  • uc003wik.6,
  • EST328128,
  • mitochondrial ABC protein,
  • OTTHUMG00000158686,
  • HGNC:49,
  • M-ABC1,
  • MABC1,
  • ABCB8,
  • NM_007188,
  • EST328128,
  • AF047690
  • identifiers:
  • 11194,
  • ENSG00000197150,
  • ABCB8

Genome feature

Region: gene ? Length: 19361  
Location: 7:151028422-151047782 Cyto location: 7q36.1


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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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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

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

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

16 Data Sets

26 Homologues

0 Located Features

97 Rna Seq Results