CYB5A
Function
Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.
Involvement in disease
Methemoglobinemia and ambiguous genitalia
METAG
An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cytochrome b5 family.
Cellular localization
- Isoform 1
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Cytoplasmic side
- Microsome membrane
- Single-pass membrane protein
- Cytoplasmic side
- Isoform 2
- Cytoplasm
Alternative names
CYB5, CYB5A, Cytochrome b5, Microsomal cytochrome b5 type A, MCB5