CEP290 Antibody

Centrosomal protein 290 (CEP290) is a member of the nephrocystins, a family of proteins involved in renal cystic diseases. CEP290 and the nephrocystins appear to play a role in cilia and basal body function. Loss-of-function mutations in CEP290 result in Joubert syndrome and related disorders characterized by brain malformations, developmental delay, ataxia, irregular breathing, renal disease, and hepatic fibrosis.

Alternative names for CEP290 Antibody include nephrocystin-6 antibody, tumor antigen se2-2 antibody, cancer/testis antigen 87 antibody, CT87 antibody, NPHP6 antibody, MKS4 antibody, rd16 antibody, BBS14 antibody, JBTS5 antibody, JBTS6 antibody, LCA10 antibody, SLSN6 antibody, 3H11Ag antibody, FLJ13615 antibody, FLJ21979 antibody, KIAA0373 antibody.