CFD cDNA Clone – Complement Factor D (Adipsin) (Human)

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]

CFD: Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway. Defects in CFD are the cause of complement factor D deficiency (CFDD). CFDD is an immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. Belongs to the peptidase S1 family.

Protein type: EC 3.4.21.46; Protease; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: extracellular region

Molecular Function: serine-type endopeptidase activity; serine-type peptidase activity

Biological Process: complement activation; complement activation, alternative pathway; platelet degranulation

Disease: Complement Factor D Deficiency