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

Homo sapiens

Also known as GDE

Gene ID: 178 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13805	PP2	Inhibitor	98.34%	Unkown
HY-13804	PP1		99.00%	Unkown
HY-112720	AGL-2263	Inhibitor	98.26%	Unkown
HY-RS00449	AGL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-112350	AGL 2043	Inhibitor	/	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
Macaca fascicularis	AGL	NCBI	NCBI:102141897
Others	AGL	NCBI

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