AGL - amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Gene

Also Known as GDE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 178

About AGL

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:99,849,258-99,924,023 (from NCBI)

This gene has 8 transcripts (splice variants), 238 orthologues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 9.7), esophagus (RPKM 9.2) and 25 other tissues.

Summary

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

AGL Products (5)

mRNA	Protein	Name
NM_000028.2	NP_000019.2	glycogen debranching enzyme isoform 1
NM_000642.3	NP_000633.2	glycogen debranching enzyme isoform 1
NM_000643.2	NP_000634.2	glycogen debranching enzyme isoform 1
NM_000644.2	NP_000635.2	glycogen debranching enzyme isoform 1
NM_000646.2	NP_000637.2	glycogen debranching enzyme isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 4-alpha-glucanotransferase activity	EXP EXP: Inferred from Experiment	2961257	GOA
enables amylo-alpha-1,6-glucosidase activity	EXP EXP: Inferred from Experiment	2961257	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17908927	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17908927	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AGL Protein Structure

hGDE_N

hDGE_amylase

hGDE_central

GDE_C

0
300
600
900
1200
1532 a.a.

Protein Preferred Names	Protein Names
glycogen debranching enzyme	amylo-1, 6-glucosidase, 4-alpha-glucanotransferase

AGL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86766	AGL/Alpha-glucosidase Antibody (YA6459)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Glycogen Storage Disease Iii	Glycogen Storage Disease Type Iii Forbes Disease Cori Disease Glycogen Storage Disease Iiia Amylo-1,6-Glucosidase Deficiency Glycogen Storage Disease Iiib Limit Dextrinosis GSD3 Agl Deficiency Glycogen Debrancher Deficiency Gde Deficiency Glycogen Storage Disease Iiic Debrancher Deficiency Glycogen Storage Disease Type 3 Glycogenosis Type Iii Glycogen Storage Disease Iiid Amylo 1,6 Glucosidase Deficiency Deficiency Of Debranching Enzyme Deficiency Of Dextrin Glycogen Storage Disease, Type Iii Glycogen Debranching Enzyme Deficiency Cori'S Disease Gsd Iii Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Cori-Forbes Disease Gsd Due To Glycogen Debranching Enzyme Deficiency Gsd Type 3 Gsdiii Glycogenosis Due To Glycogen Debranching Enzyme Deficiency Glycogenosis Type 3 Glycogen Storage Disease 3 Glycogen Debranching Enzyme Deficiency Gsd-Iii Gsd Iiia Gsd Iiib Gsd Iiic Gsd Iiid Storage Disease, Glycogen, Type Iii
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Myopathy	Muscular Diseases Myopathies
Glycogen Storage Disease Vi	Glycogen Storage Disease Type Vi Hers Disease GSD6 Gsd Vi Hepatic Glycogen Phosphorylase Deficiency Phosphorylase Deficiency Glycogen-Storage Disease Of Liver Hers' Disease Glycogen Storage Disease Type 6 Glycogen Storage Disease 6 Gsd Type Vi Glycogenosis Type Vi Glycogen Storage Disease, Type Vi Hepatophosphorylase Deficiency Glycogenosis Liver Phosphorylase Deficiency Syndrome Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency Gsd Due To Liver Glycogen Phosphorylase Deficiency Gsd Type 6 Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency Glycogenosis Type 6 Hepatic Phosphorylase Deficiency Liver Glycogen Phosphorylase Deficiency Her Glycogen Storage Disease Vib Gsd-Vi Liver Phosphorylase Deficiency Storage Disease, Glycogen, Type Vi
Bladder Lateral Wall Cancer	Lateral Wall Of Bladder Malignant Neoplasm Of Lateral Wall Of Urinary Bladder
Glycogen Storage Disease Ix
Liver Cirrhosis	Cirrhosis Cirrhosis Of Liver CIRRH Cryptogenic Cirrhosis Cirrhosis, Cryptogenic Cirrhosis Nos
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia
Neutropenia, Severe Congenital, X-Linked	X-Linked Severe Congenital Neutropenia XLN SCNX Severe Congenital Neutropenia X-Linked Neutropenia, Congenital, Severe, X-Linked
Glycogen Storage Disease Ixb	GSD9B Gsd Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Type 9b Glycogen Storage Disease Type Ixb Glycogenosis Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9b Glycogenosis Type Ixb Gsd Due To Liver And Muscle Phosphorylase Kinase Deficiency Gsd Type 9b Gsd Type Ixb Glycogenosis Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease 9b Gsd-Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle Storage Disease, Glycogen, Type Ixb
Acquired Generalized Lipodystrophy	Lawrence Syndrome Acquired Lipoatrophic Diabetes Lawrence-Seip Syndrome Familial Generalized Lipodystrophy
Glycogen Storage Disease Ixa	Glycogen Storage Disease Type 9a Glycogen Storage Disease Type Ixa Glycogenosis Type 9a Glycogenosis Type Ixa Gsd Type 9a Gsd Type Ixa Gsd9a
Glycogen Storage Disease Ixc	GSD9C Glycogen Storage Disease Type Ixc Gsd Ixc Glycogen Storage Disease Type 9c Glycogenosis Type 9c Glycogenosis Type Ixc Gsd Type 9c Gsd Type Ixc Glycogen Storage Disease 9c Alg Autosomal Liver Glycogenosis Gsd-Ixc Storage Disease, Glycogen, Type Ixc
Glycogen Storage Disease V	Mcardle Disease Myophosphorylase Deficiency Glycogen Storage Disease Type V Muscle Glycogen Phosphorylase Deficiency Pygm Deficiency Gsd V Glycogen Storage Disease, Type V Glycogenosis Type V Glycogen Storage Disease Type 5 GSD5 Pygmy Mcardle'S Disease Mcardle Type Glycogen Storage Disease Gsd Type V Pygmy, African Gsdv Gsd 5 Glycogenosis 5 Mcardle Syndrome Muscle Phosphorylase Deficiency Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency Gsd Due To Muscle Glycogen Phosphorylase Deficiency Gsd Type 5 Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency Glycogenosis Type 5 Glycogen Storage Disease 5 Gsd-V Mcardles Disease Storage Disease, Glycogen, Type V
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Terminal Osseous Dysplasia	Terminal Osseous Dysplasia And Pigmentary Defects Terminal Osseous Dysplasia-Pigmentary Defects Syndrome Todpd TOD Odpd Odpf Syndrome Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula Odpf Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula Terminal Osseous Dysplasia With Pigmentary Defects Dcd Digitocutaneous Dysplasia Terminal Osseous Dysplasia And Pigmentary Defect Syndrome Osseous Dysplasia And Pigmentary Defects
Glycogen Storage Disease Vii	Glycogen Storage Disease Type Vii Muscle Phosphofructokinase Deficiency Tarui Disease GSD7 Pfkm Deficiency Gsd Vii Glycogen Storage Disease, Type Vii Glycogen Storage Disease Type 7 Phosphofructokinase Deficiency Glycogenosis Type Vii Phosphofructokinase Myopathy Glycogenosis 7 Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency Gsd Due To Muscle Phosphofructokinase Deficiency Gsd Type 7 Gsd Type Vii Glycogenosis Due To Muscle Phosphofructokinase Deficiency Glycogenosis Type 7 Glycogen Storage Disease 7 Gsd-Vii Storage Disease, Glycogen, Type Vii
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13805	PP2	Inhibitor	99.14%	Unkown
HY-13804	PP1		99.57%	Unkown
HY-112720	AGL-2263	Inhibitor	98.31%	Unkown
HY-13805R	PP2 (Standard)	Inhibitor	99.05%	Unkown
HY-144584	AGL-0182-30		/	Unkown
HY-RS00449	AGL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-112350	AGL 2043	Inhibitor	/	Unkown
HY-P1364	Pep1-AGL	Control	/	Unkown
HY-RS17356	Agl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23810	Agl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27209	Btg2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AGL	VGNC	VGNC:69744
Bos taurus	AGL	VGNC	VGNC:25729
Felis catus	AGL	VGNC	VGNC:59682
Canis familiaris	AGL	VGNC	VGNC:37704
Mus musculus	AGL	MGD	MGI:1924809
Rattus norvegicus	AGL	RGD	RGD:1306376
Others	AGL	NCBI