重组NPHP3蛋白
交货期：1周
产品别名：Recombinant NPHP3
Recombinant nephrocystin 3 protein
Recombinant nephrocystin 3 protein
基因名：
产品别名：
背景信息：
NPHP3
产品别名：
CFAP31； MKS7； NPH3； RHPD； RHPD1； SLSN3； NPHP3； nephrocystin 3； nephrocystin 3； nephrocystin-3； Meckel syndrome, type 7； cilia and flagella associated protein 31； nephronophthisis 3 (adolescent)； NPHP3蛋白；
背景信息：
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]
产品发布日期：2025.08.07
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