CYB5R3

CYB5R3 (Cytochrome B5 Reductase 3) is a Protein Coding gene. Diseases associated with CYB5R3 include Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase and Hereditary Methemoglobinemia. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is CYB5R1.

Cytochrome B5 Reductase 3

Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Blood circulation Source: ProtInc
Cholesterol biosynthetic process Source: UniProtKB-KW
L-ascorbic acid metabolic process Source: Reactome
Neutrophil degranulation Source: Reactome
Nitric oxide biosynthetic process Source: FlyBase
Xenobiotic metabolic process Source: Reactome

Isoform 1: Endoplasmic reticulum membrane; Mitochondrion outer membrane
Isoform 2: Cytoplasm. Produces the soluble form found in erythrocytes.

Methemoglobinemia CYB5R3-related (METHB-CYB5R3):
A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms.