Cytochrome P450, Family 2, Subfamily U, Polypeptide 1

Alternative Names

CYP2U1

Length

21,913 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_183075.3:c.533G>C	Lebanon	chr4:107945012		Pathogenic	Spastic Paraplegia 56, Autosomal Recessive	NG_007961.1:g.18452G>C; NM_183075.3:c.533G>C; NP_898898.1:p.Arg178Tyr	1183645965
NM_183075.3:c.850T>C	Saudi Arabia	NC_000004.12:g.107945329T>C	Benign, Likely Benign	Uncertain Significance		NG_007961.1:g.18769T>C; NM_183075.3:c.850T>C; NP_898898.1:p.Phe284Leu	148477072	512742
NM_183075.3:c.947A>T	Saudi Arabia	NC_000004.12:g.107945426A>T	Likely Pathogenic, Pathogenic	Pathogenic	Spastic Paraplegia 56, Autosomal Recessive	NG_007961.1:g.18866A>T; NM_183075.3:c.947A>T; NP_898898.1:p.Asp316Val	397514513	39500

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2U1 https://www.ncbi.nlm.nih.gov/gene/113612

Contributors

Pratibha Nair: 21.10.2020

Edit History

Pratibha Nair: 21.10.2020

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