2. Gene
  3. PFKM - phosphofructokinase, muscle Gene

PFKM - phosphofructokinase, muscle Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸果糖激酶，肌肉

种属: Homo sapiens

同用名: GSD7; PFK1; PFKA; PFKX; PFK-1; PFK-A; ATP-PFK; PPP1R122

基因 ID: 5213 | 基因类型: protein coding

关于 PFKM

Cytogenetic location: 12q13.11 Genomic coordinates (GRCh38): 12:48,105,353-48,146,404 (from NCBI)

This gene has 32 transcripts (splice variants), 282 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 77.2), brain (RPKM 32.0) and 21 other tissues.

功能概要

人体中存在三种磷酸果糖激酶同工酶：肌肉、肝脏和血小板。这些同工酶作为哺乳动物四聚体磷酸果糖激酶的亚基发挥作用，催化果糖 6-磷酸磷酸化为果糖 1,6-二磷酸。四聚体的组成因组织类型而异。该基因编码肌肉型同工酶。该基因的突变与 VII 型糖原贮积病 (也称为 Tarui 病) 有关。已经描述了可变剪接的转录变体。[RefSeq 提供，2009 年 11 月]

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

PFKM 基因产物(19)

mRNA Protein Name
NM_000289.6 NP_000280.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001166686.2 NP_001160158.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001166687.2 NP_001160159.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001166688.2 NP_001160160.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354735.1 NP_001341664.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 3
NM_001354736.1 NP_001341665.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 3
NM_001354737.1 NP_001341666.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001354738.1 NP_001341667.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001354739.1 NP_001341668.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001354740.1 NP_001341669.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 4
NM_001354741.2 NP_001341670.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 5
NM_001354742.2 NP_001341671.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354743.2 NP_001341672.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354744.2 NP_001341673.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354745.2 NP_001341674.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 6
NM_001354746.2 NP_001341675.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 7
NM_001354747.2 NP_001341676.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 8
NM_001354748.2 NP_001341677.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 8
NM_001363619.2 NP_001350548.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 9

PFKM 蛋白结构

PFK

PFK: Phosphofructokinase (16 - 326)

PFK

PFK: Phosphofructokinase (402 - 685)

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

ATP-dependent 6-phosphofructokinase, muscle type

6-phosphofructo-1-kinase

重组 PFKM 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71090 PFKM Protein, Human (HEK293, His) P08237-1 (T2-V780) ≥95%
HY-P74635 PFKM Protein, Human (sf9, His-GST) P08237-1 (T2-V780) ≥95%

关联疾病

疾病名称 别名
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
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 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
Hyperuricemia

Blood Urate Raized

Uricacidemia
Myopathy

Muscular Diseases

Myopathies
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3

MLASA3
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10366 PFKM Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PFKM RGD RGD:68419
Mus musculus PFKM MGD MGI:97548
Felis catus PFKM VGNC VGNC:68808
Canis familiaris PFKM VGNC VGNC:44447
Macaca mulatta PFKM VGNC VGNC:75961
Bos taurus PFKM VGNC VGNC:32774
Others PFKM NCBI
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