GRM4
Homo sapiens
Gene Name: Glutamate receptor, metabotropic 4
Aliases: GPRC1D, MGLUR4, mGlu4
Chromosome No: 6
Chromosome Band: 6p21.31
Genetic Category: Functional-Rare single gene variant
Aliases: GPRC1D, MGLUR4, mGlu4
Chromosome No: 6
Chromosome Band: 6p21.31
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 1
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 1
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Findings in GRM4 knockout mice indicated a function of mGluR4 in maintaining the excitation/inhibition balance, which is of crucial importance for information processing in the brain and the deterioration of these processes in neuropsychological disorders such as autism (Iscru et al., 2013).
Molecular Function
L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. This gene encodes a glutamate receptor whose activity is mediated by a G-protein that inhibits adenylate cyclase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Improved spatial learning is associated with increased hippocampal but not prefrontal long-term potentiation in mGluR4 knockout mice.
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD