Gene Symbol | syngap1b |
Entrez Gene ID | 100151149 |
Full Name | synaptic Ras GTPase activating protein 1b |
Synonyms | si:dkey-246f6.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Danio rerio(zebrafish) |
Summary | This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. In mammals, 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. In humans, allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Morpholino knockdown of this gene in zebrafish results in neural cell death, developmental delay of mid- and hindbrain regions, seizure-like behavior, and disrupted motor behaviors. [provided by RefSeq, Nov 2016]. |