GAA - alpha glucosidase Gene

Also Known as LYAG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2548

About GAA

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,101,581-80,119,881 (from NCBI)

This gene has 9 transcripts (splice variants), 233 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 28.0), placenta (RPKM 26.2) and 25 other tissues.

Summary

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GAA Products (5)

mRNA	Protein	Name
NM_000152.5	NP_000143.2	lysosomal alpha-glucosidase preproprotein
NM_001079803.3	NP_001073271.1	lysosomal alpha-glucosidase preproprotein
NM_001079804.3	NP_001073272.1	lysosomal alpha-glucosidase preproprotein
NM_001406741.1	NP_001393670.1	lysosomal alpha-glucosidase preproprotein
NM_001406742.1	NP_001393671.1	lysosomal alpha-glucosidase preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-1,4-glucosidase activity	IDA IDA: Inferred from direct assay	9505277	GOA
enables alpha-glucosidase activity	EXP EXP: Inferred from Experiment	5264799	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	10931430	GOA
involved in diaphragm contraction	IMP IMP: Inferred from mutant phenotype	16917947	GOA
involved in glycogen catabolic process	IDA IDA: Inferred from direct assay	9505277	GOA
involved in lysosome organization	IMP IMP: Inferred from mutant phenotype	7717400	GOA
involved in vacuolar sequestering	IMP IMP: Inferred from mutant phenotype	10931430	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lysosome	IDA IDA: Inferred from direct assay	9505277	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

GAA Protein Structure

Trefoil

Gal_mutarotas_2

Glyco_hydro_31

0
200
400
600
800
952 a.a.

Protein Preferred Names	Protein Names
lysosomal alpha-glucosidase	acid maltase

GAA Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P83127	GAA Antibody (YA2872)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Glycogen Storage Disease Due To Acid Maltase Deficiency, Late-Onset	Alpha-1,4-Glucosidase Acid Deficiency, Late-Onset Gsd Due To Acid Maltase Deficiency, Late-Onset Gsd Type 2, Late-Onset Gsd Type Ii, Late-Onset Glycogen Storage Disease Type 2, Late-Onset Glycogen Storage Disease Type Ii, Late-Onset Glycogenosis Type 2, Late-Onset Glycogenosis Type Ii, Late-Onset Pompe Disease, Late-Onset
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
Glycoprotein Storage Disease
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Alpha-1,4-Glucosidase Acid Deficiency, Infantile Onset Gsd Due To Acid Maltase Deficiency, Infantile Onset Gsd Type 2, Infantile Onset Gsd Type Ii, Infantile Onset Glycogen Storage Disease Type 2, Infantile Onset Glycogen Storage Disease Type Ii, Infantile Onset Glycogenosis Due To Acid Maltase Deficiency, Infantile Onset Glycogenosis Type 2, Infantile Onset Glycogenosis Type Ii, Infantile Onset Pompe Disease, Infantile Onset
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
Creatine Phosphokinase, Elevated Serum	Hyperckemia, Idiopathic Cpk, Elevated Serum Hyperckmia HYPCK
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Myopathy	Muscular Diseases Myopathies
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
Danon Disease	Pseudoglycogenosis Ii Antopol Disease Glycogen Storage Disease Iib Glycogen Storage Disease Type 2b Glycogen Storage Disease Type Iib Gsd2b Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency Vacuolar Cardiomyopathy And Myopathy X-Linked Vacuolar Cardiomyopathy And Myopathy, X-Linked Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly Gsd2b, Formerly Gsd Iib, Formerly Glycogen Storage Cardiomyopathy Glycogen Storage Disease Limited To The Heart Pseudoglycogenosis 2 X-Linked Vacuolar Cardiomyopathy And Myopathy Lysosomal Glycogen Storage Disease With Normal Acid Maltase Glycogen Storage Disease Due To Lamp-2 Deficiency Gsd Due To Lamp-2 Deficiency Glycogenosis Due To Lamp-2 Deficiency Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity DAND Gsd-Iib
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
Glycogen Storage Disease Iv	Gsd Iv Glycogen Branching Enzyme Deficiency Andersen Disease Amylopectinosis Glycogen Storage Disease Type Iv GSD4 Brancher Deficiency Glycogen Storage Disease, Type Iv Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gbe1 Deficiency Glycogenosis Iv Cirrhosis, Familial, With Deposition Of Abnormal Glycogen Glycogen Storage Disease Type 4 Glycogenosis 4 Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features Andersen'S Disease Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Brancher Deficiency Glycogenosis Branching-Transferase Deficiency Glycogenosis Deficiency Of 1,4-Alpha-Glucan Branching Enzyme Andersen-Tawil Syndrome Gsd 4 Andersen Cardiodysrhythmic Periodic Paralysis Lqt7 Long Qt Syndrome 7 Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Andersen Glycogenosis Branching Enzyme Deficiency Glycogenosis, Type Iv Gsd Type Iv Type Iv Glycogenosis Gbe Deficiency, Childhood Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Gsd Type 4, Childhood Neuromuscular Form Gsdiv, Childhood Neuromuscular Form Glycogen Storage Disease Type 4, Childhood Neuromuscular Form Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form Glycogenosis Type 4, Childhood Neuromuscular Form Glycogenosis Type Iv, Childhood Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gbe Deficiency, Adult Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Gsd Type 4, Adult Neuromuscular Form Gsdiv, Adult Neuromuscular Form Glycogen Storage Disease Type 4, Adult Neuromuscular Form Glycogen Storage Disease Type Iv, Adult Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form Glycogenosis Type 4, Adult Neuromuscular Form Glycogenosis Type Iv, Adult Neuromuscular Form Gbe Deficiency, Congenital Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Gsd Type 4, Congenital Neuromuscular Form Gsdiv, Congenital Neuromuscular Form Glycogen Storage Disease Type 4, Congenital Neuromuscular Form Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form Glycogenosis Type 4, Congenital Neuromuscular Form Glycogenosis Type Iv, Congenital Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Gsd Type 4, Childhood Combined Hepatic And Myopathic Form Gsdiv, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form Gbe Deficiency, Fatal Perinatal Neuromuscular Form Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Gsd Type 4, Fatal Perinatal Neuromuscular Form Gsdiv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gbe Deficiency, Non Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Gsd Type 4, Non Progressive Hepatic Form Gsdiv, Non Progressive Hepatic Form Glycogen Storage Disease Type 4, Non Progressive Hepatic Form Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form Glycogenosis Type 4, Non Progressive Hepatic Form Glycogenosis Type Iv, Non Progressive Hepatic Form Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gbe Deficiency, Progressive Hepatic Form Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Gsd Type 4, Progressive Hepatic Form Gsdiv, Progressive Hepatic Form Glycogen Storage Disease Type 4, Progressive Hepatic Form Glycogen Storage Disease Type Iv, Progressive Hepatic Form Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form Glycogenosis Type 4, Progressive Hepatic Form Glycogenosis Type Iv, Progressive Hepatic Form Glycogen Storage Disease 4 Gsd-Iv Storage Disease, Glycogen, Type Iv
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Miyoshi Muscular Dystrophy	Distal Myopathy Distal Muscular Dystrophy Miyoshi Myopathy Distal Myopathies Dystrophy, Muscular, Miyoshi Myopathy, Distal Distal Muscular Dystrophies
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Phosphatase, Acid, Of Tissues	Lysosomal Acid Phosphatase Acp3--Alpha Polypeptide
Oculopharyngeal Muscular Dystrophy	OPMD Muscular Dystrophy, Oculopharyngeal Dystrophy, Oculopharyngeal Muscular Oculopharyngeal Dystrophy Progressive Muscular Dystrophy, Oculopharyngeal Type Muscular Dystrophy Oculopharyngeal Dystrophy, Muscular, Oculopharyngeal
Atrial Standstill 1	ATRST1 Atrial Cardiomyopathy With Heart Block Cardiomyopathy, Familial, With Conduction Disturbance Atrial Standstill, Digenic Familial Cardiomyopathy With Conduction Disturbance Standstill, Atrial, Type 1 Heart Block Cardiomyopathies Idiopathic Cardiomyopathy Idiopathic Cardiopathy Primary Myocardial Disease Primary Cardiomyopathy Myocardiopathy Myocardosis Primary Idiopathic Myocardial Disease
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Myopathy, X-Linked, With Excessive Autophagy	X-Linked Myopathy With Excessive Autophagy Xmea MEAX Vacuolar Myopathy
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Cardiac Arrest	Cardiopulmonary Arrest Circulatory Arrest Heart Arrest
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Cat. No.	상품명	Purity	Rare Diseases
HY-132609	Patisiran sodium	99.09%	Unkown
HY-132608	Inotersen sodium	96.44%	Unkown
HY-132611	Golodirsen	96.12%	Unkown

Clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Phase
HY-132586	Viltolarsen	Modulator	95.25%	Phase 4
HY-108753	Eteplirsen		98.50%	Phase 3
HY-132596	Tivanisiran	Inhibitor	97.48%	Phase 3
HY-150724	ODN 1018	Agonist	99.28%	Phase 2
HY-148100	Emapticap pegol	Inhibitor	91.38%	Phase 2
HY-132602	Remlarsen	Agonist	92.27%	Phase 2

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-150738	ODN 2088	Antagonist	98.82%	Unkown
HY-147217	Bepirovirsen	Inhibitor	98.44%	Unkown
HY-150750	ODN M362		96.01%	Unkown
HY-150736	ODN 20844	Inhibitor	96.14%	Unkown
HY-145725A	Baliforsen	Inhibitor	98.12%	Unkown
HY-147412	Ultevursen	Modulator	94.24%	Unkown
HY-150744	ODN 24888	Inhibitor	/	Unkown
HY-144124	5-C-heptyl-DNJ	Inhibitor	/	Unkown
HY-150740	ODN 21595	Inhibitor	/	Unkown
HY-154995	N-4′-(p-Trifluoromethylphenyl)butyl-DAB	Inhibitor	/	Unkown
HY-178200	5-C-phenethyl-DNJ hydrochloride	Activator	/	Unkown
HY-178202	5-C-phenethyl-DNJ	Inhibitor	/	Unkown
HY-183723	GAA-4OH	Inhibitor	/	Unkown
HY-E70183	Lysosomal α-Glucosidase		/	Unkown
HY-RS05196	GAA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-182209	GAA Trimer phosphoramidite		/	Unkown
HY-RS17242	Gaa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23696	Gaa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GAA	RGD	RGD:735227
Mus musculus	GAA	MGD	MGI:95609
Felis catus	GAA	VGNC	VGNC:62411
Macaca mulatta	GAA	VGNC	VGNC:72841
Canis familiaris	GAA	VGNC	VGNC:41044
Bos taurus	GAA	VGNC	VGNC:29182
Others	GAA	NCBI