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NPHP3蛋白抗体
半岛bd体育手机客户端 介绍
靶标：
NPHP3 半岛bd体育手机客户端 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],
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