LP61780-0

GLRA1 gene

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Description

The GLRA1 gene (glycine receptor, alpha 1) [HGNC Gene ID:4326] is located on chromosome 5q32. The protein encoded by this gene, glycine receptor alpha-1, is a subunit of a pentameric inhibitory glycine receptor. The receptor 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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] [NCBI Gene ID:2741] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type	Source	Reference
Webcontent	Online Mendelian Inheritance in Man^®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.	Link to OMIM

Basic Part Properties

Part Name: GLRA1 gene
Part Display Name: GLRA1 gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2006-12-12
Construct for LOINC Short Name: GLRA1 gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:4326	GLRA1
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	2741	GLRA1

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Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	GLRA1 基因 Synonyms: Glycine receptor 48 kDa subunit;Glycine receptor alpha-1 chain precursor;glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome);STHE;Strychnine-binding subunit;士的宁结合亚单位;士的宁结合亚基;甘氨酸受体 48 kDa 亚基;甘氨酸受体 alpha 1 (惊吓病/过度惊吓症, 僵人综合征);甘氨酸受体
et-EE	Estonian (Estonia)	GLRA1 geen
es-ES	Spanish (Spain)	Gen GLRA1
it-IT	Italian (Italy)	GLRA1, gene Synonyms: Gene GLRA1
tr-TR	Turkish (Turkey)	GLRA1 geni
ru-RU	Russian (Russian Federation)	GLRA1 ген
nl-NL	Dutch (Netherlands)	GLRA1-gen Synonyms: GLRA1 gen
fr-FR	French (France)	GLRA1 gène
pl-PL	Polish (Poland)	GLRA1 gen Synonyms: Gen GLRA1
el-GR	Greek (Greece)	Γονίδιο GLRA1 Synonyms: Γονίδιο GLRA1

LOINC Copyright

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