Version 2.78

Descriptions

Factor V gene mutation causes APC resistance and is used as a confirmatory test for abornormal APC resistance. Source: Regenstrief Institute

The F5 gene (coagulation factor V (proaccelerin, labile factor)) [HGNC Gene ID:3542] is located on chromosome 1q23. This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2153] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
F5 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
F5 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19697-9
ConceptMap translate
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) F5 基因
Synonyms: APC;FVL;不稳定因素;促凝血球蛋白原基因;凝血因子 V - Leiden 基因;凝血因子Ⅴ - Leiden 基因;加速凝血球蛋白基因;易变因子;活化型蛋白C辅助因子;活化型蛋白C辅因子;活化蛋白C辅助因子;活化蛋白C辅因子;活性型蛋白C辅助因子;活性型蛋白C辅因子;活性蛋白C辅助因子;活性蛋白C辅因子;激活型蛋白C辅助因子;激活型蛋白C辅因子;激活蛋白C辅助因子;激活蛋白C辅因子;血栓形成倾向
fr-CA French (Canada) Gène F5
et-EE Estonian (Estonia) F5 geen
es-ES Spanish (Spain) Gen F5
it-IT Italian (Italy) F5, gene
Synonyms: Gene F5
tr-TR Turkish (Turkey) F5 geni
ru-RU Russian (Russian Federation) F5 ген
nl-NL Dutch (Netherlands) F5-gen
Synonyms: f5 gen
fr-BE French (Belgium) Gène F5