CYB5A

CYB5A (Cytochrome B5 Type A) is a Protein Coding gene. Diseases associated with CYB5A include Methemoglobinemia Type Iv and Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include enzyme binding and cytochrome-c oxidase activity. An important paralog of this gene is CYB5B.

Cytochrome B5 Type A

Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

L-ascorbic acid metabolic process Source: Reactome
Protein insertion into ER membrane Source: Reactome
Response to cadmium ion Source: Ensembl

Isoform 1: Endoplasmic reticulum membrane; Microsome membrane
Isoform 2: Cytoplasm

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.

Helical: 109-131