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NPHP1 nephrocystin 1

Also known as: NPH1; JBTS4; SLSN1

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Joubert syndrome 4See labs
Nephronophthisis 1
MedGen: C1855681OMIM: 256100GeneReviews: Not available
See labs
Senior-Loken syndrome 1
MedGen: C0403553OMIM: 266900GeneReviews: Not available
See labs

Genomic context

Location:
2q13
Sequence:
Chromosome: 2; NC_000002.12 (110123336..110205062, complement)
Total number of exons:
23

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