CYB5A

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]

Description

cytochrome b5 type A (microsomal)

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Mitochondrial proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

18:q22.3 (74250847 - 74292016)

Ensembl ID

ENSG00000166347  (ver. 84.38)

Orthologs

Mouse Cyb5a: ENSMUSG00000024646

UniProt

P00167

neXtProt

NX_P00167

Human splice variants
Mouse splice variants