Glycine Receptor, Alpha-1 Subunit

Alternative Names

  • GLRA1

Associated Diseases

Hyperekplexia, Hereditary 1
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OMIM Number

138491

NCBI Gene ID

2741

Uniprot ID

P23415

Length

102,354 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Glycine Receptor Subunit Alpha-1

Molecular Mass

52624 Da

Amino Acid Count

457

Genomic Location

chr5:151,822,513-151,924,866

Gene Map Locus
5q33.1

Description

The GLRA1 gene encodes the alpha-1 subunit of the glycine receptor protein.  The pentameric glycine receptor is made up of two alpha-1 subunits and three beta subunits.  It functions as a ligand-gated chloride channel in neurons and is activated by binding to extracellular glycine.  By allowing chloride ions into the cell, the receptor is responsible for postsynaptic inhibition and it plays an important role in the down-regulation of neuronal excitability.  Channel activity is also potentiated by zinc, ethanol and taurine.

Defects in the GLRA1 gene result in a non-functioning glycine receptor that does not allow chloride ions to enter the cells.  This leads to increased cell signaling and neuronal excitability such as the exaggerated startle reaction and muscle contractions seen in Hyperekplexia, Hereditary 1 disorder (HKPX1). 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000171.4:c.1214G>AUnited Arab EmiratesNC_000005.10:g.151822809C>TBenign, Likely BenignLikely PathogenicHyperekplexia, Hereditary 1NG_011764.1:g.107028G>A; NM_000171.4:c.1214G>A; NP_000162.2:p.Arg405Gln199561280352307
NM_000171.4:c.994G>ASyriaNC_000005.10:g.151828986C>TUncertain SignificanceLikely PathogenicHyperekplexia, Hereditary 1NG_011764.1:g.100851G>A; NM_000171.4:c.994G>A; NP_000162.2:p.Val332Ile1468001309570499
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