CYB5A, CYB5, Cytochrome b5, Microsomal cytochrome b5 type A, MCB5
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],disease:Defects in CYB5A are the cause of type IV hereditary methemoglobinemia [MIM:250790].,function:Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.,similarity:Belongs to the cytochrome b5 family.,similarity:Contains 1 cytochrome b5 heme-binding domain.,
