GRIN1 wt Allele

Preferred Label : GRIN1 wt Allele;

NCIt synonyms : NDHMSD; NR1; DEE101; Glutamate Ionotropic Receptor NMDA Type Subunit 1 wt Allele; GluN1; NMDA1; MRD8; NDHMSR; NMDAR1; N-Methyl-D-Aspartate Receptor Channel, Subunit Zeta-1 Gene; Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 Gene; hNR1; NMD-R1; Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate, Subunit 1 Gene;

NCIt definition : Human GRIN1 wild-type allele is located in the vicinity of 9q34.3 and is approximately 30 kb in length. This allele, which encodes glutamate receptor ionotropic, NMDA 1 protein, plays a role in amino acid-type neurotransmitter binding and ion transport. Mutations in the gene are associated with developmental and epileptic encephalopathy 101 and both autosomal dominant and autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures.;

GenBank Accession Number : NM_007327;

Détails

Origin ID

C217375;

OMIM relation
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.3 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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