NPHP3 Rabbit Polyclonal Antibody, 20ul Isothermal Amplification includes an N-terminal SCAN domain
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NPHP3 Rabbit Polyclonal Antibody, 20ul Isothermal Amplification includes an N-terminal SCAN domainThis 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
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