Gene: ZBTB9

Alternate names for this Gene: ZNF919

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: zinc finger and BTB domain containing 9

Type of Gene: protein-coding

Gene: SYNGAP1

Alternate names for this Gene: MRD5|RASA1|RASA5|SYNGAP

Gene Summary: This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: synaptic Ras GTPase activating protein 1

Type of Gene: protein-coding