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Gene : CYB5A Homo sapiens

Name  ? cytochrome b5 type A Cytological Location  18q22.3
Brief Description  cytochrome b5 type A
Description  The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
  • synonyms:
  • M22865,
  • CYB5,
  • NM_001914,
  • MCB5,
  • cytochrome b5 (microsomal),
  • METAG,
  • OTTHUMG00000132843,
  • uc002lli.4,
  • cytochrome b5 type A (microsomal),
  • CYB5,
  • cytochrome b-5,
  • CYB5A,
  • HGNC:2570,
  • NM_148923
  • identifiers:
  • 1528,
  • ENSG00000166347,
  • CYB5A

Genome feature

Region: gene ? Length: 41135  
Location: 18:74250846-74291980 reverse strand Cyto location: 18q22.3


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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

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]

Homology

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Interactions

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Expression

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

Gene Ontology

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Other

3753 SN Ps

5 Cross References

19 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results