GRM6 wt Allele

Preferred Label : GRM6 wt Allele;

NCIt synonyms : MGLUR6; GPRC1F; mGlu6; Glutamate Receptor, Metabotropic 6 wt Allele; CSNB1B; Glutamate Receptor, Metabotropic, 6 Gene;

NCIt definition : Human GRM6 wild-type allele is located within and is approximately 30 kb in length. This allele, which encodes metabotropic glutamate receptor 6 protein, plays a role in glutamatergic neurotransmission and in the inhibition of the cyclic AMP cascade pathway.;

NCIt note : Mutation of the GRM6 gene is associated with autosomal recessive congenital stationary night blindness type 1B.;

GenBank Accession Number : NM_000843;

Details

Origin ID

C51464;

UMLS CUI

C1706588;

OMIM relation
- Glutamate receptor, metabotropic, 6 [OMIM gene]
See also inter- (CISMeF)
- congenital stationary night blindness 1B [DO Concept]
- night blindness, congenital stationary [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 5: 178354730-178337938 [NCIt concept]
gene_in_chromosomal_location
- 5q35 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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