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]