full name
EPM2A, laforin glucan phosphatase

synonyms
EPM2, MELF, EPM2A, ENSG00000112425

HGNC
HGNC:3413

Entrez Gene
Gene:7957

ENSEMBL
ENSG00000112425

location
chr: 6
start: 145946440
stop: 146057128
strand: -

OMIM
OMIM:607566: EPM2A (Autosomal recessive inheritance,Heterogeneous)
OMIM:254780: Epilepsy, progressive myoclonic 2A (Lafora)

transcripts
NM_001018041.1
NM_005670.3

pathways
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of carbohydrate metabolism [NCBI:1268940] [REACTOME:R-HSA-5663084]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Glucose metabolism [NCBI:1269959] [REACTOME:R-HSA-70326]
Glycogen storage diseases [NCBI:1268953] [REACTOME:R-HSA-3229121] [PUBMED:22248338] [PUBMED:17027861] [PUBMED:14171618] [PUBMED:13670930] [PUBMED:19118303]
Glycogen synthesis [NCBI:1269962] [REACTOME:R-HSA-3322077] [PUBMED:22248338] [PUBMED:18651836] [PUBMED:9806880]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Myoclonic epilepsy of Lafora [NCBI:1268954] [REACTOME:R-HSA-3785653] [PUBMED:15930137] [PUBMED:20538597] [PUBMED:12958597] [PUBMED:21356517] [PUBMED:19469843] [PUBMED:9931343] [PUBMED:21552327] [PUBMED:23913475] [PUBMED:22248338] [PUBMED:9771710]