full name
glycogenin 1

synonyms
GSD15, GYG, GYG1, ENSG00000163754

HGNC
HGNC:4699

Entrez Gene
Gene:2992

ENSEMBL
ENSG00000163754

location
chr: 3
start: 148709195
stop: 148745456
strand: +

OMIM
OMIM:603942: GYG1 (Autosomal recessive inheritance)
OMIM:613507: ?Glycogen storage disease XV
OMIM:616199: Polyglucosan body myopathy 2

transcripts
NM_004130.3
NM_001184720.1
NM_001184721.1

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 breakdown (glycogenolysis) [NCBI:1269963] [REACTOME:R-HSA-70221] [PUBMED:4320262] [PUBMED:183599]
Glycogen storage disease type 0 (muscle GYS1) [NCBI:1309194] [REACTOME:R-HSA-3828062] [PUBMED:19699667] [PUBMED:17928598]
Glycogen storage disease type II (GAA) [NCBI:1309198] [REACTOME:R-HSA-5357609] [PUBMED:1652892] [PUBMED:1898413] [PUBMED:22644586] [PUBMED:13954110] [PUBMED:5264799]
Glycogen storage disease type IV (GBE1) [NCBI:1309199] [REACTOME:R-HSA-3878781] [PUBMED:8613547] [PUBMED:15452297]
Glycogen storage disease type XV (GYG1) [NCBI:1309200] [REACTOME:R-HSA-3814836] [PUBMED:20357282]
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]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Lysosomal glycogen catabolism [NCBI:1269964] [REACTOME:R-HSA-5357572] [PUBMED:8420990] [PUBMED:5264799] [PUBMED:3049072] [PUBMED:21767668]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
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]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Starch and sucrose metabolism [NCBI:82974] [KEGG:hsa00500]
glycogen biosynthesis [NCBI:142202] [BIOCYC:HUMAN_PWY-5067] [PUBMED:8354390] [PUBMED:7672505] [PUBMED:15238248] [PUBMED:12051921] [PUBMED:9023518]