GRIK2 Summary

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]

GRIK2 Details

Gene Symbol : GRIK2

Gene Name : Glutamate ionotropic receptor kainate type subunit 2

Chromosome : CHR 6: 101,393,707-102,070,082

Locus : 6q16.3

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ASCC3 Summary

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ASCC3 Details

Gene Symbol : ASCC3

Gene Name : Activating signal cointegrator 1 complex subunit 3

Chromosome : CHR 6: 100,881,371-100,508,193

Locus : 6q16.3

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