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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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NPHP3
nephronophthisis 3 (adolescent)
NPHP3 is 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.
| Gene Name: | nephronophthisis 3 (adolescent) |
| Synonyms: | NPHP3, KIAA2000, Meckel syndrome, type 7, Nephrocystin-3, NPH3, RHPD, MKS7 |
| Target Sequences: | NM_153240 NP_694972.3 Q7Z494 |
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