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Gene : CYB5R3 Homo sapiens

Name  ? cytochrome b5 reductase 3 Cytological Location  22q13.2
Brief Description  cytochrome b5 reductase 3
Description  This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]
  • synonyms:
  • uc003bcz.4,
  • OTTHUMG00000150745,
  • DIA1,
  • B5R,
  • M16461,
  • DIA1,
  • NM_000398,
  • HGNC:2873,
  • CYB5R3,
  • NADH-cytochrome b5 reductase 3,
  • diaphorase (NADH) (cytochrome b-5 reductase)
  • identifiers:
  • 1727,
  • ENSG00000100243,
  • CYB5R3

Genome feature

Region: gene ? Length: 31553  
Location: 22:42617840-42649392 reverse strand Cyto location: 22q13.2


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Disease

1 Diseases

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3740 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results