CYB5A gene

cytochrome b5 type A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

From UniProt:

Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.

From NCBI Gene:

  • Methemoglobinemia type 4

From UniProt:

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. [MIM:250790]

Cytogenetic Location: 18q22.3, which is the long (q) arm of chromosome 18 at position 22.3

Molecular Location: base pairs 74,253,292 to 74,292,016 on chromosome 18 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 18q22.3, which is the long (q) arm of chromosome 18 at position 22.3
  • CYB5
  • MCB5
  • METAG