Version 2.78

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

Basic Part Properties

Part Display Name
Glycine receptor Ab
Part Type
Component (Describes the core component or analyte measured)
Created On
2020-08-18
Construct for LOINC Short Name
GlyR Ab

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP420122-6