• Thumbnail for SYNGAP1
    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
  • Thumbnail for Epilepsy
    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
  • Thumbnail for Courtney A. Miller
    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
  • Thumbnail for Pleckstrin homology domain
    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
  • Thumbnail for ULK1
    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
  • Thumbnail for CHD2
    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