CYB5A
Description
The CYB5A (cytochrome b5 type A) is a protein-coding gene located on chromosome 18.
Cytochrome b5, form A (gene name CYB5A), is a human microsomal cytochrome b5. Cytochrome b5 is a membrane bound hemoprotein which functions as an electron carrier for several membrane bound oxygenases. It has two isoforms produced by alternative splicing. Isoform 1 is bound to the cytoplasmic side of the endoplasmic reticulum. It has a C-terminal transmembrane alpha-helix. Isoform 2 was found in cytoplasm. Defects in CYB5A are the cause of type IV hereditary methemoglobinemia.
CYB5A is also known as CYB5, MCB5, METAG.
Associated Diseases
- Methemoglobinemia and ambiguous genitalia
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- Hereditary methemoglobinemia
