Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene. This gene encodes a protein which contains a proline-rich region. The encoded...
5 KB (658 words) - 00:26, 3 December 2023
Type OMIM Genes SLSN1 266900 NPHP1 SLSN3 606995 unknown SLSN4 606996 NPHP4 SLSN5 609254 NPHP5/IQCB1 SLSN6 610189 NPHP6/CEP290 SLSN7 613615 SDCCAG8...
5 KB (372 words) - 16:36, 22 October 2024
them to conclude "Our findings suggest that the NPHP genes (NPHP1, NPHP3, NPHP4) involved in the pathogenesis of recessive cystic kidney disease also belong...
8 KB (949 words) - 12:39, 2 November 2024
Q9Y5X5 10724 NPHP1 HGNC:7905 O15259 10725 NPHP3 HGNC:7907 Q7Z494 10726 NPHP4 HGNC:19104 O75161 10727 NPHS1 HGNC:7908 O60500 10728 NPHS2 HGNC:13394 Q9NP85...
282 KB (17 words) - 09:28, 10 February 2025
this can be explained by its relation with inversin gene. NPHP1, NPHP3, NPHP4, NPHP5, and NPHP6 are sometimes seen with retinitis pigmentosa, this particular...
10 KB (865 words) - 20:59, 14 March 2025
602088; INVS Nephronophthisis 3; 604387; NPHP3 Nephronophthisis 4; 606966; NPHP4 Nephronophthisis 7; 611498; GLIS2 Nephropathy with pretibial epidermolysis...
234 KB (18,877 words) - 18:07, 24 March 2025
with JADE1, including: MAPT, pVHL, TIP60, HBO1, ING4, ING5, β-catenin, NPHP4. GRCh38: Ensembl release 89: ENSG00000077684 – Ensembl, May 2017 GRCm38:...
51 KB (6,055 words) - 18:46, 28 June 2025
RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1. Also, it can interact with MyosinVa Mutations in the...
9 KB (952 words) - 03:31, 10 May 2024