CFH

GENE INFORMATION

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Gene name

CFH (HGNC Symbol)

Synonyms

ARMD4, ARMS1, FHL1, HF, HF1, HF2, HUS

Description

complement factor H (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1 (Chromosome progress)

Cytoband

q31.3

Chromosome location (bp)

196621008 - 196716634

Ensembl

ENSG00000000971 (version 73.37)

Entrez gene

3075

UniProt

P08603 (UniProt - Evidence at protein level)

neXtProt

NX_P08603

Antibodypedia

CFH antibodies
 

PROTEIN VIEW

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CFH-001
 
CFH-002
 
CFH-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CFH-001 ENSP00000356399
ENST00000367429
P08603
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Show » Show » 1231 139.1 Yes 0
CFH-002 ENSP00000352658
ENST00000359637
Q5TFM2
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385 43.8 Yes 0
CFH-201 ENSP00000402656
ENST00000439155
F8WDX4
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449 51 Yes 0