GLRA1 wt Allele

Preferred Label : GLRA1 wt Allele;

NCIt synonyms : Glycine Receptor, Alpha-1 Subunit Gene; Stiff Person Syndrome Gene; Glycine Receptor, Alpha 1 (Startle Disease/Hyperekplexia) Gene; Glycine Receptor Alpha 1 wt Allele; STHE; HKPX1;

NCIt definition : Human GLRA1 wild-type allele is located in the vicinity of 5q33.1 and is approximately 102 kb in length. This allele, which encodes glycine receptor subunit alpha-1 protein, plays a role in glycine binding and inhibition of the associated neurotransmission pathways. Mutations in the gene are associated with hyperekplexia 1 (startle disease, stiff-person syndrome).;

GenBank Accession Number : NM_000171;

Details

Origin ID

C207238;

OMIM relation
- Glycine receptor, alpha-1 subunit [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q33.1 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Glycine Receptor Binding [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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