產(chǎn)品編號 | bs-19329P |
英文名稱 | NPHP3 Antibody Blocking Peptide |
中文名稱 | NPHP3蛋白封閉多肽 |
別 名 | Meckel syndrome, type 7; MKS7; Nephrocystin-3; nephronophthisis 3 (adolescent); NPH3; Nphp3; NPHP3_HUMAN; pcy; RHPD. |
性 狀 | Lyophilized powder |
物 種 | human |
純化方法 | HPLC |
活性 | Not tested |
保存條件 | Shipped at 4℃. Stored at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
產(chǎn)品介紹 | 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] SWISS: Q7Z494 Gene ID: 27031 |
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