DISEASES

Disease-gene associations mined from literature

Literature associating CD59 and multiple congenital anomalies-hypotonia-seizures syndrome 2

CD59 [ENSP00000379191]

CD59 molecule, complement regulatory protein; Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase; Blood group antigens

Synonyms:  CD59,  CD59p,  hCD59,  CD59-001,  CD59-002 ...

Linkouts:  STRING  Pharos  UniProt