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Gene : CFH Homo sapiens

Name  ? complement factor H Cytological Location  1q31.3
Brief Description  complement factor H
Description  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]
  • synonyms:
  • ARMS1,
  • Y00716,
  • FHL1,
  • FH,
  • CFH,
  • age-related maculopathy susceptibility 1,
  • OTTHUMG00000035607,
  • HF2,
  • HF2,
  • uc001gtj.4,
  • HUS,
  • H factor 1 (complement),
  • HGNC:4883,
  • beta-1H,
  • HUS,
  • AHUS1,
  • NM_000186,
  • HF1,
  • CFHL3,
  • FHL1,
  • H factor 2 (complement),
  • HF,
  • AMBP1,
  • HF,
  • HF1,
  • ARMD4,
  • ARMD4,
  • ARMS1
  • identifiers:
  • 3075,
  • ENSG00000000971,
  • CFH

Genome feature

Region: gene ? Length: 95627  
Location: 1:196651878-196747504 Cyto location: 1q31.3


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4 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

4 Located Features

97 Rna Seq Results