LP66641-9

CFH gene

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Description

The CFH gene (complement factor H) [HGNC Gene ID:4883] 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 Name: CFH gene
Part Display Name: CFH gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2008-02-05
Construct for LOINC Short Name: CFH gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:4883	CFH
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	3075	CFH

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Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	CFH 基因 Synonyms: 补体H因子基因;complement factor H gene;散发性非典型溶血尿毒综合征;aHUS;年龄相关性黄斑变性;Age-related macular degeneration;AMD
et-EE	Estonian (Estonia)	CFH geen
es-ES	Spanish (Spain)	Gen CFH
it-IT	Italian (Italy)	CFH, gene Synonyms: Gene CFH
tr-TR	Turkish (Turkey)	CFH geni
ru-RU	Russian (Russian Federation)	CFH ген
nl-NL	Dutch (Netherlands)	CFH-gen Synonyms: CFH gen
fr-FR	French (France)	CFH gène
pl-PL	Polish (Poland)	CFH gen Synonyms: Gen CFH
el-GR	Greek (Greece)	Γονίδιο CFH Synonyms: Γονίδιο CFH

LOINC Copyright

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