Hyperekplexia 2; HKPX2

Disease ID:448
Name:Hyperekplexia 2; HKPX2
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Hereditary hyperekplexia
Database Links
OMIM: 614619
Orphanet: ORPHA3197

Targets

glycine receptor β subunit
Comments:  Human hyperekplexia is caused by simultaneous occurrence on separate alleles of a GlyR β subunit missense mutation (G229D) that modestly reduces the glycine sensitivity of α1β GlyRs and a β subunit splice variant that excises exon 5. When present on a single allele, the individual mutations result in no phenotype.
References:  1
Mutations:  glycine receptor β subunit is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Hyperekplexia 2; HKPX2

References

Show »

1. Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ. (2002) Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum. Mol. Genet., 11 (7): 853-60. [PMID:11929858]