protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12. The gene CEP290 is a centrosomal protein that plays...
12 KB (1,625 words) - 01:51, 3 December 2023
(converting light into electrical signals for the brain); ALMS1, CCT2, CEP290, CLUAP1, IFT140, IQCB1, LCA5, MYO7A, RD3, RPGRIP1, SPATA7, and TULP1 in...
17 KB (1,751 words) - 15:47, 7 September 2024
ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290, TMEM67, MKS1, MKKS chaperone: BBS6[citation needed] The diagnosis of BBS...
15 KB (1,432 words) - 05:31, 17 June 2024
gene. Late onset PRA is caused by an autosomal recessive mutation in the CEP290 gene. The Abyssinian is one of the more commonly affected breeds for pyruvate...
19 KB (2,066 words) - 05:20, 11 October 2024
MKS1, TMEM67, TMEM216, CEP290, RPGRIP1L, CC2D2A Liver, heart, bone Nephronophthisis 256100 NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L Kidney...
35 KB (2,499 words) - 18:40, 12 July 2024
Gene MKS1 609883 MKS1 MKS2 603194 TMEM216 MKS3 607361 TMEM67 MKS4 611134 CEP290 MKS5 611561 RPGRIP1L MKS6 612284 CC2D2A MKS7 608002 NPHP3 MKS8 613846 TCTN2...
10 KB (942 words) - 14:57, 29 October 2024
608629 AHI1 6q23.3 Autosomal recessive JBTS4 609583 NPHP1 2q13 JBTS5 610188 CEP290 NPHP6 12q21.32 Autosomal recessive JBTS6 610688 TMEM67 8q22.1 Autosomal...
18 KB (1,543 words) - 12:28, 11 June 2024
(BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18),...
18 KB (2,184 words) - 17:44, 17 April 2024
Jacobsen syndrome 11 1:100,000 Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9 Juvenile-onset...
42 KB (983 words) - 18:14, 6 October 2024
Q9Y4F5 2816 CEP192 HGNC:25515 Q8TEP8 2817 CEP250 HGNC:1859 Q9BV73 2818 CEP290 HGNC:29021 O15078 2819 CEP295 HGNC:29366 Q9C0D2 2820 CEP295NL HGNC:44659...
277 KB (17 words) - 18:34, 6 October 2024