NPHP3 抗体
(Nephronophthisis 3 (Adolescent) (NPHP3))
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].
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Latest Publications for our NPHP3 抗体
: "A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome." in: Skeletal muscle, Vol. 3, Issue 1, pp. 3, (2013) (PubMed).
Aliases for NPHP3 抗体
nephronophthisis 3 (nphp3) 抗体nephrocystin 3 (NPHP3) 抗体
nephronophthisis 3 (adolescent) (Nphp3) 抗体
nephrocystin 3 (Nphp3) 抗体
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