PYGM - glycogen phosphorylase, muscle associated Gene

Homo sapiens

Also known as GSD5

Gene ID: 5837 | Gene type: protein coding

About PYGM

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,746,389-64,760,715 (from NCBI)

This gene has 5 transcripts (splice variants), 261 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in esophagus (RPKM 41.2), prostate (RPKM 24.2) and 6 other tissues.

Summary

This gene encodes a muscle Enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

PYGM Products(2)

mRNA	Protein	Name
NM_001164716.1	NP_001158188.1	glycogen phosphorylase, muscle form isoform 2
NM_005609.4	NP_005600.1	glycogen phosphorylase, muscle form isoform 1

PYGM Protein Structure

Phosphorylase

0
200
400
600
842 a.a.

Protein Preferred Names

Protein Names

glycogen phosphorylase, muscle form

myophosphorylase

Related Diseases

Diseases

Alias

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

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

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

Myoglobinuria

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

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

Myoglobinuria, Recurrent

Myoglobinuria Recurrent	Recurrent Myoglobinuria Mitochondrial
RM-MT

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 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

Myopathy

Muscular Diseases

Myopathies

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Multiple Endocrine Neoplasia

Men	Multiple Endocrine Adenomatosis
Multiple Endocrine Neoplasia Syndrome	Adenomatosis, Familial Endocrine
Endocrine Neoplasia, Multiple	Familial Endocrine Adenomatosis
Mea	Multiple Endocrine Neoplasms
Multiple Endocrine Neoplasia Type 1

Cylindrical Spirals Myopathy

Myotonic Myopathy With Cylindrical Spirals

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

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

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

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis	Hokpp
Hypopp	Westphall Disease
HOKPP1	Familial Hypokalemic Periodic Paralysis
Familial Periodic Paralysis	Westphal Disease
Hypokalemic Periodic Paralysis Type 1	Hypokalemic Familial Periodic Paralysis
Periodic Hypokalemic Paralysis	Periodic Paralysis I
Hypokpp	Primary Hypokalemic Periodic Paralysis
Periodic Paralysis Hypokalemic 1	Paralysis, Hypokalemic, Periodic
Paralysis, Hypokalemic, Periodic, Type 1

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11490	PYGM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PYGM	VGNC	VGNC:76633
Bos taurus	PYGM	VGNC	VGNC:33589
Canis familiaris	PYGM	VGNC	VGNC:45226
Felis catus	PYGM	VGNC	VGNC:69194
Mus musculus	PYGM	MGD	MGI:97830
Rattus norvegicus	PYGM	RGD	RGD:3461