full name
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

synonyms
GDE, AGL, ENSG00000162688

HGNC
HGNC:321

Entrez Gene
Gene:178

ENSEMBL
ENSG00000162688

location
chr: 1
start: 100315633
stop: 100389579
strand: +

OMIM
OMIM:610860: AGL (Autosomal recessive inheritance)
OMIM:232400: Glycogen storage disease IIIa
OMIM:232400: Glycogen storage disease IIIb

transcripts
NM_000642.2
NM_000028.2
NM_000643.2
NM_000644.2
NM_000646.2
NM_000645.2

pathways
Glucose metabolism [NCBI:1269959] [REACTOME:R-HSA-70326]
Glycogen breakdown (glycogenolysis) [NCBI:1269963] [REACTOME:R-HSA-70221] [PUBMED:4320262] [PUBMED:183599]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
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]