NPHP3
nephronophthisis 3 (adolescent)
Synonyms:
MKS7, NPH3, RHPD
Species:
Human NPHP3 (27031), Mouse Nphp3 (74025), Rat Nphp3 (363126), dog NPHP3 (485665), chicken NPHP3 (420690), Zebrafish nphp3 (562601), Horse NPHP3 (100064940), naked mole-rat Nphp3 (101713364), domestic guinea pig Nphp3 (100720089), cow NPHP3 (507522) ...More
UniProtKB ID:
Gene ID:
- Human(27031) Summary: 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]
- Mouse(74025) nephronophthisis 3 (adolescent)
- Rat(363126) nephronophthisis 3 (adolescent)
- dog(485665) nephronophthisis 3 (adolescent)
- chicken(420690) nephronophthisis 3 (adolescent)
- Zebrafish(562601) nephronophthisis 3
- Horse(100064940) nephronophthisis 3 (adolescent)
- naked mole-rat(101713364) nephronophthisis 3 (adolescent)
- domestic guinea pig(100720089) nephronophthisis 3 (adolescent)
- cow(507522) nephronophthisis 3 (adolescent)
- sheep(101118406) nephronophthisis 3 (adolescent)
- domestic cat(101090135) nephronophthisis 3 (adolescent)
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