Bioassay Technology Laboratory's NPHP3 Rabbit Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot.
Description
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