Cytochrome P450, Family 2, Subfamily U, Polypeptide 1

Alternative Names

  • CYP2U1
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OMIM Number

610670

NCBI Gene ID

113612

Uniprot ID

Q7Z449

Length

21,913 bases

No. of Exons

5

No. of isoforms

2

Protein Name

Cytochrome P450 2U1

Molecular Mass

61987 Da

Amino Acid Count

544

Genomic Location

chr4:107,931,549-107,953,461

Gene Map Locus
4q25

Description

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_183075.3:c.533G>CLebanonchr4:107945012PathogenicSpastic Paraplegia 56, Autosomal RecessiveNG_007961.1:g.18452G>C; NM_183075.3:c.533G>C; NP_898898.1:p.Arg178Tyr1183645965
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