1. Gene
  2. PYGM - glycogen phosphorylase, muscle associated Gene

PYGM - glycogen phosphorylase, muscle associated Gene

中文名称:糖原磷酸化酶,肌肉相关

种属: Homo sapiens

同用名: GSD5

基因 ID: 5837 | 基因类型: protein coding

关于 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.

功能概要

该基因编码参与糖原分解的肌肉酶。在肝脏和大脑中发现了由不同基因编码的高度相似的酶。该基因的突变与麦卡德尔病 (肌磷酸化酶缺乏症) 有关,这是一种肌肉糖原贮积病。可变剪接导致多个转录变体。[RefSeq 提供,2009 年 9 月]

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 基因产物(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 蛋白结构

Phosphorylase

Phosphorylase: Carbohydrate phosphorylase (112 - 830)

  • 0
  • 200
  • 400
  • 600
  • 842 a.a.
蛋白主名 其他名称

glycogen phosphorylase, muscle form

myophosphorylase

PYGM 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PYGM P11217 PRKAB2 Homo sapiens O43741 25416956
种属内
PYGM P11217 NTAQ1 Homo sapiens Q96HA8 25416956
种属内
PYGM P11217 NTAQ1 Homo sapiens Q96HA8 31515488
种属内
PYGM P11217 NTAQ1 Homo sapiens Q96HA8 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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