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 CYB5A-related (METHB-CYB5A): 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. [MIM:250790]

Cytogenetic Location: 18q23, which is the long (q) arm of chromosome 18 at position 23

Molecular Location: base pairs 74,253,292 to 74,292,016 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q23, which is the long (q) arm of chromosome 18 at position 23
  • CYB5
  • MCB5