Gene Symbol | CYB5A |
Entrez Gene ID | 1528 |
Full Name | cytochrome b5 type A |
Synonyms | CYB5,MCB5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Methemoglobinemia, type IV, 250790 (3) |