Cytochrome P450, Family 4, Subfamily F, Polypeptide 22

Alternative Names

CYP4F22
Cytochrome P450, Subfamily IVF, Polypeptide 22

Length

43,834 bases

No. of Exons

No. of isoforms

Protein Name

Cytochrome P450 4F22

Molecular Mass

61958 Da

Amino Acid Count

531

Genomic Location

chr19:15,508,484-15,552,317

Gene Map Locus

19p13.12

Description

This gene codes for a member of the cytochrome P450 family of enzymes. Mutations in this gene have been found to result in an autosomal recessive form of congenital ichthyosis, ARCI5.

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_173483.3:c.1114C>T	Algeria	NC_000019.10:g.15544257C>T	Pathogenic	Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 5	NG_007987.1:g.40733C>T; NM_173483.3:c.1114C>T; NP_775754.2:p.Arg372Trp	201129618	560328
NM_173483.3:c.1303C>T	Algeria	chr19:15549170	Pathogenic	Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 5	NG_007987.1:g.45646C>T ; NM_173483.3:c.1303C>T; NM_173483.3:c.1303C>T	118203935	909
NM_173483.3:c.1306C>G	Algeria	chr19:15549173	Pathogenic	Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 5	NG_007987.1:g.45649C>G ; NM_173483.3:c.1306C>G; NP_775754.2:p.His436Asp	118203936	910
NM_173483.3:c.177C>G	Algeria	NC_000019.10:g.15525513C>G	Likely Pathogenic, Pathogenic	Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 5	NG_007987.1:g.21989C>G ; NM_173483.3:c.177C>G; NP_775754.2:p.Phe59Leu	118091316	560326
NM_173483.3:c.728G>A	Algeria	chr19:15540506	Pathogenic	Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 5	NG_007987.1:g.36982G>A ; NM_173483.3:c.728G>A; NP_775754.2:p.Arg243His	118203937	911
NM_173483.3:c.981del	Lebanon	NC_000019.10:g.15544012del		Pathogenic	Ichthyosis, Congenital, Autosomal Recessive 5	NG_007987.1:g.40488del; NM_173483.3:c.981del; NP_775754.2:p.Glu328LysfsTer42	1568362644	560327

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External Links

http://atlasgeneticsoncology.org/Genes/GC_CYP4F22.html https://ghr.nlm.nih.gov/gene/CYP4F22 https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4F22

Contributors

Pratibha Nair: 30.07.2019

Edit History

Pratibha Nair: 30.07.2019

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