Description

The GYS2 gene (glycogen synthase 2 (liver)) [HGNC Gene ID:4707] is located on chromosome 12p12.2. The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009] [NCBI Gene ID:2998] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
GYS2 gene
Part Display Name
GYS2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
GYS2 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71425-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP71425-0

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)GYS2 基因
Synonyms: glycogen synthase 2 (liver);糖原合成酶 2 (肝脏);糖元合成酶 2 (肝脏);GYS2;肝脏型糖原合成酶
et-EEEstonian (Estonia)GYS2 geen
es-ESSpanish (Spain)Gen GYS2
it-ITItalian (Italy)GYS2, gene
Synonyms: Gene GYS2
tr-TRTurkish (Turkey)GYS2 geni
ru-RURussian (Russian Federation)GYS2 ген
nl-NLDutch (Netherlands)GYS2-gen
Synonyms: GYS2 gen
fr-FRFrench (France)GYS2 gène
pl-PLPolish (Poland)GYS2 gen
Synonyms: Gen GYS2
el-GRGreek (Greece)Γονίδιο GYS2
Synonyms: Γονίδιο GYS2