GLRA1 wt Allele

**Semantic type:** Gene or Genome

**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).

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