Version 2.78

Description

The EPM2A gene (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)) [HGNC Gene ID:3413] is located on chromosome 6q24. This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7957] 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
EPM2A gene
Part Display Name
EPM2A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-02-17
Construct for LOINC Short Name
EPM2A gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35094-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35094-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) EPM2A 基因
Synonyms: EPM2;Laforin;Laforin（一种双特异性磷酸酶; 酪氨酸磷酸酶; 重组的 Laforin 能够水解磷酸酪氨酸以及磷酸丝氨酸/苏氨酸底物）;LD;LDE;MELF;癫痫, 进行性肌阵挛 2A 型, Lafora 病;进行性肌阵挛癫痫症
et-EE Estonian (Estonia) EPM2A geen
es-ES Spanish (Spain) Gen EPM2A
it-IT Italian (Italy) EPM2A, gene
Synonyms: Gene EPM2A
tr-TR Turkish (Turkey) EPM2A geni
ru-RU Russian (Russian Federation) EPM2A ген
nl-NL Dutch (Netherlands) EPM2A-gen
Synonyms: EPM2A gen