Description
Product Characteristics:
Aliases: Meckel syndrome, type 7 antibody, MKS7 antibody, Nephrocystin-3 antibody, nephronophthisis 3 (adolescent) antibody, NPH3 antibody, Nphp3 antibody, NPHP3_HUMAN antibody, pcy antibody, RHPD antibody
Target Information: This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]