Description
Product Characteristics:
This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011].
Subcellular location: Secreted
Synonyms: C4a anaphylatoxin, Complement C4-A alpha chain, complement C4-A proprotein, Acidic C4, Acidic complement C4, Basic C4, Basic complement C4, C4 Anaphylatoxin, C4 complement C4d region, complement C4 alpha chain, C4A, C4A13, C4A2, C4A3, C4A4, C4A6, C4A91, C4B, C4B1, C4B12, C4B2, C4B3, C4B5, C4F, C4S, CH, Chido form of C4, CO4, Complement C4 A, Complement C4 B, Complement C4B, Complement component 4A Rodgers blood group, Complement component 4A, Complement component 4B Childo blood group, Complement component 4B, Complement component C4B, CPAMD2, CPAMD3. RG, Rodgers Form Of C4.
Target Information: This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]