PFKM - phosphofructokinase, muscle Gene

Homo sapiens

Also known as GSD7; PFK1; PFKA; PFKX; PFK-1; PFK-A; ATP-PFK; PPP1R122

Gene ID: 5213 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

PFK

0
200
400
600
780 a.a.

Protein Preferred Names

Protein Names

ATP-dependent 6-phosphofructokinase, muscle type

6-phosphofructo-1-kinase

Recombinant PFKM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71090	PFKM Protein, Human (HEK293, His)	P08237 (T2-V780)	≥95%
HY-P74635	PFKM Protein, Human (sf9, His-GST)	P08237 (T2-V780)	≥95%

Related Diseases

Diseases

Alias

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

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-RS10366	PFKM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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