Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene. This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations...
10 KB (1,198 words) - 12:10, 2 November 2024
syndrome 2 (CORS2) JBTS3 608629 AHI1 6q23.3 Autosomal recessive JBTS4 609583 NPHP1 2q13 JBTS5 610188 CEP290 NPHP6 12q21.32 Autosomal recessive JBTS6 610688...
18 KB (1,541 words) - 18:02, 16 April 2025
C5ORF42, CC2D2A, CEP41, CEP290, CORS2, INPP5E, JBTS1, JBTS3, JBTS4, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216, TMEM237 Rentia...
26 KB (2,301 words) - 00:14, 29 April 2025
Jacobsen syndrome 11 1:100,000 Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423...
43 KB (995 words) - 17:02, 21 January 2025
of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia...
5 KB (372 words) - 16:36, 22 October 2024
situs inversus this can be explained by its relation with inversin gene. NPHP1, NPHP3, NPHP4, NPHP5, and NPHP6 are sometimes seen with retinitis pigmentosa...
10 KB (865 words) - 20:59, 14 March 2025
research leads them to conclude "Our findings suggest that the NPHP genes (NPHP1, NPHP3, NPHP4) involved in the pathogenesis of recessive cystic kidney disease...
8 KB (949 words) - 12:39, 2 November 2024
have been identified for this gene. INVS has been shown to interact with NPHP1. GRCh38: Ensembl release 89: ENSG00000119509 – Ensembl, May 2017 GRCm38:...
6 KB (808 words) - 16:50, 2 December 2024
O15130 10722 NPFFR1 HGNC:17425 Q9GZQ6 10723 NPFFR2 HGNC:4525 Q9Y5X5 10724 NPHP1 HGNC:7905 O15259 10725 NPHP3 HGNC:7907 Q7Z494 10726 NPHP4 HGNC:19104 O75161...
282 KB (17 words) - 09:28, 10 February 2025
PMID 17345604. S2CID 24057475. Tory K, Lacoste T, Burglen L, et al. (2007). "High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis:...
12 KB (1,625 words) - 01:51, 3 December 2023
300804; OFD1 Joubert syndrome 2; 608091; TMEM216 Joubert syndrome 4; 609583; NPHP1 Joubert syndrome 5; 610188; CEP290 Joubert syndrome 6; 610688; TMEM67 Joubert...
234 KB (18,877 words) - 18:07, 24 March 2025
has been shown to interact with: BRCA2, CD29 CASR, FBLIM1, FILIP1, FLNB, NPHP1, RALA, SH2B3, TRIO, and VHL. The edited residue was previously recorded...
16 KB (1,903 words) - 23:10, 28 September 2024
develop as renal cysts. 10 genes were found to be responsible for NPHP: NPHP1-6, Glis2/NPHP7, RPGRIPL1/NPHP8, NEK8/NPHP9, and MKS3/NPHP11. Mutations in...
15 KB (1,513 words) - 12:44, 24 October 2024
DLG3, DLG4, Ewing sarcoma breakpoint region 1, FYN, GRIN2A, Gelsolin, NPHP1, PITPNM1, PTPN11, PTPN6, Paxillin, RAS p21 protein activator 1, RB1CC1,...
16 KB (1,887 words) - 08:02, 10 July 2024