Search for a gene
CYB5A - cytochrome b5 type A
- Synonym(s) :
- Previous symbols and names : CYB5, cytochrome b-5, cytochrome b5 (microsomal), cytochrome b5 type A (microsomal)
- Type : gene with protein product
- Chromosomal location : 18q22.3
- OMIM: 613218
- HGNC: 2570
- UniProtKB: P00167
- Genatlas: CYB5A
- GenCC: CYB5A
- Ensembl: ENSG00000166347
- IUPHAR-DB: -
- Reactome: P00167
- LOVD: CYB5A
Diseases list
- Disease-causing germline mutation(s) in 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
ORPHA:90796 - Candidate gene tested in Hereditary methemoglobinemia
ORPHA:621

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.