in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the...
10 KB (1,188 words) - 05:25, 29 January 2024
mutations in several genes, including MYOC, ASB10, WDR36, NTF4, TBK1, and RPGRIP1. Many of these genes are involved in critical cellular processes that are...
90 KB (9,849 words) - 12:15, 25 June 2025
RPGRIP1-like Identifiers Symbol RPGRIP1L Alt. symbols NPHP8, KIAA1005, CORS3, JBTS7, MKS5, FTM NCBI gene 23322 HGNC 29168 OMIM 610937 RefSeq NM_015272...
9 KB (952 words) - 03:31, 10 May 2024
brain); ALMS1, CCT2, CEP290, CLUAP1, IFT140, IQCB1, LCA5, MYO7A, RD3, RPGRIP1, SPATA7, and TULP1 in maintaining the cilia on photoreceptor cells; LRAT...
17 KB (1,757 words) - 21:18, 29 May 2025
million dogs that had undergone genetic screening identified the gene RPGRIP1 as being prevalent in 4.65% of Pumi dogs. This gene is responsible for...
25 KB (2,884 words) - 17:49, 28 May 2025
Swaroop, A.; Wright, A. F. (2005). "RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin". Human...
12 KB (1,204 words) - 04:58, 2 February 2025
Dong-Hyun; Li, Tiansen; Andréasson, Sten; Berson, Eliot L. (May 2001). "Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis". The American Journal...
37 KB (3,553 words) - 01:59, 24 June 2025
Q9H9Y2 13966 RPF2 HGNC:20870 Q9H7B2 13967 RPGR HGNC:10295 Q92834 13968 RPGRIP1 HGNC:13436 Q96KN7 13969 RPGRIP1L HGNC:29168 Q68CZ1 13970 RPH3A HGNC:17056...
282 KB (17 words) - 09:28, 10 February 2025
(2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42...
11 KB (1,150 words) - 04:39, 2 June 2025
RASA2; RASA3; RASA4; RASAL1; RASAL2; RGS3; RIMS1; RIMS2; RIMS3; RIMS4; RPGRIP1; RPGRIP1L; RPH3A; SGA72M; SMURF1; SMURF2; SYNGAP1; SYT1; SYT10; SYT11;...
11 KB (1,059 words) - 16:49, 31 July 2024
been shown to interact with PDE6D nephronophthisis (NPHP) proteins and RPGRIP1. Binding to PDE6D has been shown to ensure ciliary localization of the...
18 KB (2,274 words) - 06:43, 9 June 2025
Letteboer SJ, Arts HH, et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated...
5 KB (658 words) - 00:26, 3 December 2023
(2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42...
8 KB (1,014 words) - 01:52, 23 February 2025
RAXL1 Cone–rod dystrophy 12; 612657; PROM1 Cone–rod dystrophy 13; 608194; RPGRIP1 Cone–rod dystrophy 14; 602093; GUCA1A Cone–rod dystrophy 15; 613660; CDHR1...
234 KB (18,877 words) - 18:07, 24 March 2025