Protein C

Alternative Names

PROC
PC

Length

10,842 bases

No. of Exons

No. of isoforms

Protein Name

Vitamin K-dependent protein C

Molecular Mass

52071 Da

Amino Acid Count

461

Genomic Location

chr2:127,418,405-127,429,246

Gene Map Locus

2q14.3

Description

The PROC gene, located on chromosome 2q14.3, encodes a vitamin K-dependent plasma glycoprotein. This protein is an essential plasma anticoagulant produced from the liver; it remains inactive until it cleaves to its activated form by the thrombin-thrombomodulin complex. The activated protein regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Defects in this protein are the cause of protein C deficiency, an important risk factor of hereditary thrombophilia.

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_000312.3:c.1198G>A	United Arab Emirates	NC_000002.12:g.127428758G>A		Likely Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	NG_016323.1:g.15339G>A; NM_000312.3:c.1198G>A; NP_000303.1:p.Gly400Ser	1688698427
NM_000312.3:c.1238_1241delCCTG	Saudi Arabia	chr2:127428798:127428801		Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	NG_016323.1:g.15379_15382delCCTG; NM_000312.3:c.1238_1241delCCTG
NM_000312.3:c.796+3A>T	Saudi Arabia	chr2:127427225		Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	NG_016323.1:g.13806A>T; NM_000312.3:c.796+3A>T
NM_000312.3:c.811C>T	Saudi Arabia	NC_000002.12:g.127428371C>T	Likely Pathogenic, Pathogenic, Uncertain Significance	Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	NG_016323.1:g.14952C>T; NM_000312.3:c.811C>T; NP_000303.1:p.Arg271Trp	767112991	536970
NM_000312.3:c.925G>A	Lebanon	NC_000002.12:g.127428485G>A	Likely Pathogenic, Pathogenic	Pathogenic	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	NG_016323.1:g.15066G>A; NM_000312.3:c.925G>A; NP_000303.1:p.Ala309Thr	121918146	662

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External Links

http://ghr.nlm.nih.gov/gene/PROC http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROC

Contributors

Pratibha Nair: 08.04.2020
Nada Assaf: 29.05.2017
Sayeeda Hana: 13.10.2016
Nada Assaf: 23.07.2015

Edit History

Pratibha Nair: 07.07.2022
Pratibha Nair: 14.06.2022
Sami Bizzari: 17.03.2022
Pratibha Nair: 08.04.2020
Pratibha Nair: 25.07.2017
Sami Bizzari: 07.12.2016
Pratibha Nair: 23.07.2015

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