RPGRIP1L is a human gene. The protein encoded by this gene is localized to primary cilia and centrosomes in ciliated human epithelial kidney cells and...
9 KB (952 words) - 03:31, 10 May 2024
SNPs rs1421085 or rs8050136 express lower levels of the adjacent gene RPGRIP1L compared to individuals carrying the protective variation. The transcription...
35 KB (3,886 words) - 21:41, 7 June 2024
Estrada-Cuzcano A, Lopez I, Den Hollander AI, et al. (2009). "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies". Nature Genetics...
35 KB (2,499 words) - 18:40, 12 July 2024
recessive JBTS6 610688 TMEM67 8q22.1 Autosomal recessive JBTS7 611560 RPGRIP1L 16q12.2 JBTS8 612291 ARL13B 3q11.1 JBTS9 612285 CC2D2A 4p15.32 Autosomal...
18 KB (1,543 words) - 12:28, 11 June 2024
MKS2 603194 TMEM216 MKS3 607361 TMEM67 MKS4 611134 CEP290 MKS5 611561 RPGRIP1L MKS6 612284 CC2D2A MKS7 608002 NPHP3 MKS8 613846 TCTN2 MKS9 614144 B9D1...
10 KB (938 words) - 19:54, 23 August 2024
1:100,000 Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9 Juvenile-onset dystonia...
42 KB (983 words) - 10:34, 21 August 2024
POLR1C POLR1D PORCN PQBP1 PRSS56 PTCH1 RAB3GAP1 RAB3GAP2 RARB RAX RBP4 RPGRIP1L SALL1 SALL2 SALL4 SCLT1 SEMA3E SHH SIX3 SIX6 SMOC1 SNX3 SOX2 SRD5A3 STRA6...
25 KB (2,173 words) - 09:44, 18 March 2024
Roepman, R. (2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature Genetics...
12 KB (1,204 words) - 14:44, 23 August 2023
Q9H7B2 13968 RPGR HGNC:10295 Q92834 13969 RPGRIP1 HGNC:13436 Q96KN7 13970 RPGRIP1L HGNC:29168 Q68CZ1 13971 RPH3A HGNC:17056 Q9Y2J0 13972 RPH3AL HGNC:10296...
282 KB (17 words) - 07:55, 20 June 2024
CC2D2A and RPGRIP1L genes may also have some minor contributions, with around 8.7% reporting a mutation on the CC2D2A gene and 4.3% on the RPGRIP1L gene. These...
20 KB (1,969 words) - 02:27, 1 January 2024
Manitoba oculotrichoanal syndrome (MOTA) MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L AR Meckel–Gruber syndrome types 1-5 unknown likely AD MOMO syndrome ZEB2...
13 KB (538 words) - 09:46, 18 March 2024
highly associated with human obesity, and promote the expression of RPGRIP1L. RPGRIP1L hypomorphism in mice results in obesity, suggesting an important role...
37 KB (4,649 words) - 00:50, 11 June 2023
RASA3; RASA4; RASAL1; RASAL2; RGS3; RIMS1; RIMS2; RIMS3; RIMS4; RPGRIP1; RPGRIP1L; RPH3A; SGA72M; SMURF1; SMURF2; SYNGAP1; SYT1; SYT10; SYT11; SYT12; SYT13;...
11 KB (1,059 words) - 16:49, 31 July 2024
R (July 2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature Genetics...
10 KB (1,188 words) - 05:25, 29 January 2024
Othman, Mohammad I.; Waseem, Naushin (2009-06-01). "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies". Nature Genetics...
9 KB (1,011 words) - 20:52, 27 November 2023
Parisi MA, Finn LS, et al. (2010). "Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)"...
5 KB (611 words) - 01:09, 6 March 2022
congenital; 119800; PITX1 COACH syndrome; 216360; CC2D2A COACH syndrome; 216360; RPGRIP1L COACH syndrome; 216360; TMEM67 Cockayne syndrome type A; 216400; ERCC8...
234 KB (18,877 words) - 15:43, 9 May 2024
melanocytes. MYO5A has been shown to interact with DYNLL1, RAB27A, DYNLL2, RPGRIP1L, and Rab3A. Defects in Myosin Va are associated with Griscelli syndrome...
15 KB (1,884 words) - 02:39, 22 July 2024