ⓘ SYNGAP1

                                     

ⓘ SYNGAP1

Synaptic Ras GTPase-activating protein 1, 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 is critical for the development of cognition and proper synapse function. Mutations in humans can cause intellectual disability or epilepsy.

                                     
  • this domain include: DAB2IP GAPVD 1 IQGAP 1 IQGAP2 IQGAP3 NF 1 RASA 1 RASA2 RASA3 RASA4 RASAL 1 RASAL2 SYNGAP1 McCormick F, Bourne HR, Sanders
  • SMURF2 SYNGAP1 SYT 1 SYT10 SYT11 SYT12 SYT13 SYT14 SYT14L SYT15 SYT16 SYT17 SYT2 SYT3 SYT4 SYT5 SYT6 SYT7 SYT8 SYT9 SYTL 1 SYTL2 SYTL3
  • SPNB4, SPTBN 1 SPTBN2, SPTBN4, SPTBN5, STAP 1 SWAP70, SYNGAP1 TBC 1 D2, TEC, TIAM 1 TRIO, TRIOBP, TYL, URP 1 URP2, VAV 1 VAV2, VAV3, VEPH 1 Pleckstrin The
  • KCNJ12 PTK2B, and SYNGAP1 Model organisms have been used in the study of DLG3 function. A conditional knockout mouse line called Dlg3tm 1 a EUCOMM Wtsi was
  • 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
  • shorter arm. AH8. 1 extends past the SYNGAP1 about 33.5 million nucleotides from the telomer. Marked deterioration occurs however after the DQB 1 gene at 32.8
  • responsible for some epileptic encephalopathies, including CHD2 and SYNGAP1 and DNM 1 GABBR2, FASN and RYR3. Syndromes in which causes are not clearly identified