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Gene : CFD Homo sapiens

Name  ? complement factor D Cytological Location  19p13.3
Brief Description  complement factor D
Description  This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
  • synonyms:
  • DF,
  • complement factor D (adipsin),
  • ADN,
  • OTTHUMG00000181840,
  • M84526,
  • HGNC:2771,
  • properdin factor D,
  • ADN,
  • NM_001928,
  • PFD,
  • uc002lqc.4,
  • adipsin,
  • DF,
  • CFD,
  • PFD,
  • D component of complement (adipsin)
  • identifiers:
  • 1675,
  • ENSG00000197766,
  • CFD

Genome feature

Region: gene ? Length: 3978  
Location: 19:859664-863641 Cyto location: 19p13.3

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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593 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results