Version 2.78

Description

The PYGM gene (phosphorylase, glycogen, muscle) [HGNC Gene ID:9726] is located on chromosome 11q12-q13.2. This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] [NCBI Gene ID:5837] 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
PYGM gene
Part Display Name
PYGM gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-10
Construct for LOINC Short Name
PYGM gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33143-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33143-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PYGM 基因
Synonyms: Glycogen-heart syndrome;McArdle 综合征;Pompe 综合征;特发性全身性糖原沉着病;糖原心综合征;糖原磷酸化酶, 肌肉型;糖原积累病 V 型;糖原贮积病 V 型;糖原贮积症 V 型;肌磷酸化酶基因;麦卡德尔综合征
et-EE Estonian (Estonia) PYGM geen
es-ES Spanish (Spain) Gen PYGM
it-IT Italian (Italy) PYGM, gene
Synonyms: Gene PYGM
tr-TR Turkish (Turkey) PYGM geni
ru-RU Russian (Russian Federation) PYGM ген
nl-NL Dutch (Netherlands) PYGM-gen
Synonyms: PYGM gen