Gene

CYB5A

Species
Homo sapiens
Symbol
CYB5A
Name
cytochrome b5 type A
Synonyms
  • CYB5
  • cytochrome b5
Biotype
protein coding gene
Automated Description
Enables enzyme binding activity. Predicted to be involved in proton transmembrane transport. Located in cytosol; intracellular membrane-bounded organelle; and membrane. Implicated in methemoglobinemia and methemoglobinemia and ambiguous genitalia. Biomarker of stomatitis.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR19359
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
74.255M74.260M74.265M74.270M74.275M74.280M74.285M74.290M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions