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Merck

NPHP1

nephronophthisis 1 (juvenile)

Synonyms:
JBTS4, NPH1, SLSN1
Species:
Human NPHP1 (4867), Mouse Nphp1 (53885), Rat Nphp1 (296136), naked mole-rat Nphp1 (101725630), cow NPHP1 (505421), chicken NPHP1 (421223), domestic guinea pig Nphp1 (100725987), Zebrafish nphp1 (100002391), dog NPHP1 (403780), sheep NPHP1 (101116556) ...More
UniProtKB ID:
O15259, O14837
Gene ID:
  • Human(4867) Summary: This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • Mouse(53885) nephronophthisis 1 (juvenile) homolog (human)
  • Rat(296136) nephronophthisis 1 (juvenile)
  • naked mole-rat(101725630) nephronophthisis 1 (juvenile)
  • cow(505421) nephronophthisis 1 (juvenile)
  • chicken(421223) nephronophthisis 1 (juvenile)
  • domestic guinea pig(100725987) nephronophthisis 1 (juvenile) homolog (human)
  • Zebrafish(100002391) nephronophthisis 1
  • dog(403780) nephronophthisis 1 (juvenile)
  • sheep(101116556) nephronophthisis 1 (juvenile)
  • Horse(100051808) nephronophthisis 1 (juvenile)
  • domestic cat(101085284) nephronophthisis 1 (juvenile)

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