also known as synaptic Ras-GAP 1 or SYNGAP1, is a protein that in humans is encoded by the SYNGAP1 gene. SYNGAP1 is a ras GTPase-activating protein that...
19 KB (2,243 words) - 05:13, 1 March 2024
SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. Symptoms...
23 KB (1,899 words) - 23:49, 7 July 2024
syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mutations in the Ras/MAPK pathway...
5 KB (470 words) - 11:25, 24 August 2024
syndrome, branched-chain keto acid dehydrogenase kinase deficiency, and SYNGAP1-related intellectual disability. Learning disabilities are also highly...
255 KB (27,008 words) - 12:03, 11 September 2024
are responsible for some epileptic encephalopathies, including CHD2 and SYNGAP1 and DNM1, GABBR2, FASN and RYR3. Syndromes in which causes are not clearly...
167 KB (18,275 words) - 13:46, 6 September 2024
67:603-17. Clement JP, Ozkan ED, Aceti M, Miller CA and Rumbaugh G (2013) SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period...
20 KB (2,351 words) - 01:09, 29 October 2021
Q8WXH0 16146 SYNE3 HGNC:19861 Q6ZMZ3 16147 SYNE4 HGNC:26703 Q8N205 16148 SYNGAP1 HGNC:11497 Q96PV0 16149 SYNGR1 HGNC:11498 O43759 16150 SYNGR2 HGNC:11499...
242 KB (17 words) - 23:17, 27 April 2024
SOS2, SPATA13, SPNB4, SPTBN1, SPTBN2, SPTBN4, SPTBN5, STAP1, SWAP70, SYNGAP1, TBC1D2, TEC, TIAM1, TRIO, TRIOBP, TYL, URP1, URP2, VAV1, VAV2, VAV3, VEPH1...
14 KB (1,434 words) - 10:27, 10 September 2024
to interact with Raptor, Beclin1, Class-III-PI3K, GABARAPL2, GABARAP, SYNGAP1 and SDCBP. ULK1 is a 112-kDa protein. It contains a N-terminal kinase domain...
17 KB (1,930 words) - 14:55, 11 August 2024
in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1". Nature Genetics. 45 (7): 825–30. doi:10.1038/ng.2646. PMC 3704157. PMID 23708187...
13 KB (1,703 words) - 07:27, 11 March 2024