Anti-CC2D2A Antibody

CC2D2A, also named as KIAA1345, may be involved in cilia formation. CC2D2A encodes a protein with similar overall structure to RPGRIP1L, including coiled-coil domains, a C2 domain, and an overlapping centrosomal protein-related domain. CC2D2A physically interacts with CEP290, and loss of Cc2d2a function in the zebrafish sentinel mutant results in abnormal body shape and pronephric (kidney) cysts that is strongly exacerbated by knockdown of Cep290 function. (PMID:19778711) Defects in CC2D2A are the cause of Meckel syndrome type 6 (MKS6) . Defects in CC2D2A are the cause of Joubert syndrome type 9 (JBTS9) . The antibody is specific to CC2D2A.