Version 2.78

Description

The FH gene (complement factor H) [HGNC Gene ID:3700] is located on chromosome 1q32. This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011] [NCBI Gene ID:3075] 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
FH gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-08-20
Construct for LOINC Short Name
FH gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP64924-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP64924-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) FH 基因
Synonyms: 富马酶基因;延胡索酸水化酶基因;延胡索酸水合酶基因;延胡索酸水合酶基因（Fumarate hydratase gene，FH Gene）;延胡酸酶基因
et-EE Estonian (Estonia) FH geen
es-ES Spanish (Spain) Gen FH
it-IT Italian (Italy) FH, gene
Synonyms: Gene FH
tr-TR Turkish (Turkey) FH geni
ru-RU Russian (Russian Federation) FH ген
nl-NL Dutch (Netherlands) FH-gen
Synonyms: FH gen