GLRA1 - glycine receptor alpha 1 Gene

Homo sapiens

Also known as STHE; HKPX1

Gene ID: 2741 | Gene type: protein coding

About GLRA1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,822,513-151,924,851 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 45 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]

GLRA1 Products(3)

mRNA	Protein	Name
NM_000171.4	NP_000162.2	glycine receptor subunit alpha-1 isoform 2 precursor
NM_001146040.2	NP_001139512.1	glycine receptor subunit alpha-1 isoform 1 precursor
NM_001292000.2	NP_001278929.1	glycine receptor subunit alpha-1 isoform 3

GLRA1 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
457 a.a.

Protein Preferred Names

Protein Names

glycine receptor subunit alpha-1

glycine receptor 48 kDa subunit

Related Diseases

Diseases

Alias

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Conversion Disorder

Conversion Hysteria Or Reaction	Conversion Hysterical Neurosis
Hysterical Neurosis, Conversion Type	Fnd
Functional Movement Disorder	Functional Neurological Disorder
Dissociative Disorder

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05492	GLRA1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLRA1	RGD	RGD:2704
Bos taurus	GLRA1	VGNC	VGNC:29412
Canis familiaris	GLRA1	VGNC	VGNC:41268
Macaca mulatta	GLRA1	VGNC	VGNC:73074
Mus musculus	GLRA1	MGD	MGI:95747
Felis catus	GLRA1	VGNC	VGNC:62588

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