Aliases for CYB5A Gene
External Ids for CYB5A Gene
Previous HGNC Symbols for CYB5A Gene
Previous GeneCards Identifiers for CYB5A Gene
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]
GeneCards Summary for CYB5A Gene
CYB5A (Cytochrome B5 Type A) is a Protein Coding gene. Diseases associated with CYB5A include methemoglobinemia, type iv and 46,xy disorder of sex development due to isolated 17,20-lyase deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include enzyme binding and cytochrome-c oxidase activity. An important paralog of this gene is CYB5B.
UniProtKB/Swiss-Prot for CYB5A Gene
Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.