Humpath.com - Human pathology

Home > A. Molecular pathology > NPHP1

NPHP1

MIM.607100 2q13

Monday 27 September 2004

Funcions

- NPHP1 encodes a novel protein, nephrocystin-1, that interacts with components of cell-cell and cell-matrix signalling, such as breast cancer anti-oestrogen resistance 1 (BCAR1), protein tyrosine kinase 2b (PTK2B), tensin-46, filamin-A (FLNA) and filamin-B (FLNB).

- NPHP1 also interacts with the products of other NPHP genes such as nephrocystin-2/inversin-12 (NPHP2), nephrocystin-3 (NPHP3) and nephrocystin-4 (NPHP4).

- Nephrocystin-1 (NPHP1) is localized at adherens junctions of renal epithelial cells. This finding, together with the fact that it directly interacts with the focal adhesion protein BCAR1, implicates nephrocystin-1 in signalling processes at adherens junctions and focal adhesions, which are involved in cell-cell and cell-basement membrane signalling, respectively.

Pathology

- germline mutations in 80% of patients with nephronophthisis (MIM.256100)
- homozygous deletion of the NPHP1 gene in Senior-Loken syndrome (MIM.266900), the association of nephronophthisis with autosomal recessive retinitis pigmentosa
- homozygous deletion of the NPHP1 gene in mild form of Joubert syndrome (JS) (MIM.213300)
- germline mutataions in nephronophthisis (MIM.256100) associated with Cogan-type congenital ocular motor apraxia (COMA) (MIM.257550)

See also:

- nephrocystins