AMPD1 - adenosine monophosphate deaminase 1 Gene

Homo sapiens

Also known as MAD; MADA; MMDD

Gene ID: 270 | Gene type: protein coding

About AMPD1

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:114,673,098-114,695,546 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 8.5), prostate (RPKM 4.6) and 8 other tissues.

Summary

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific Enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

AMPD1 Products(2)

mRNA	Protein	Name
NM_000036.3	NP_000027.3	AMP deaminase 1 isoform 1
NM_001172626.2	NP_001166097.2	AMP deaminase 1 isoform 2

AMPD1 Protein Structure

A_deaminase

0
200
400
600
780 a.a.

Protein Preferred Names

Protein Names

AMP deaminase 1

AMPD

Related Diseases

Diseases

Alias

Myopathy Due To Myoadenylate Deaminase Deficiency

Adenosine Monophosphate Deaminase Deficiency	Myoadenylate Deaminase Deficiency
Muscle Amp Deaminase Deficiency	MMDD
Ampd1 Deficiency	Amp Deaminase Deficiency
Mad Deficiency	Adenosine Monophosphate Deaminase-1 Deficiency, Myopathy Due To
Myoadenylate Deaminase Deficiency, Myopathy Due To	Adenosine Monophosphate Deaminase 1 Deficiency
Amp Deaminase 1 Deficiency	Exercise-Induced Myopathy
Mada Deficiency	Adenosine Monophosphate Deaminase Deficiency Muscle Type
Amp Deaminase Deficiency Muscle Type	Myopathy, Due To Myoadenylate Deaminase Deficiency

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

Metabolic Myopathy

Myopathy

Muscular Diseases

Myopathies

Cylindrical Spirals Myopathy

Myotonic Myopathy With Cylindrical Spirals

Myoglobinuria

Congestive Heart Failure

Congestive Heart Disease	Heart Failure
Cardiac Failure Congestive	Chf
Weak Heart	Heart Failure Congestive
Ccf - [Congestive Cardiac Failure]	Chf - [Congestive Heart Failure]
Congestive Cardiac Diseases	Congested Heart Failure
Congestive Cardiac Failure	Cardiac Anasarca
Cardiac Oedema	Cardiac Stasis
Cardiovascular Oedema	Cardiac Hydrops
Congestive Failure	Heart Congestion
Heart Fluid	Oedematous Heart

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset	Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular	Cpt Ii Deficiency, Hepatic
Cpt2 Deficiency, Infantile	Cpt Ii Deficiency, Infantile
Cpt Ii Deficiency	Carnitine Palmitoyltransferase 2 Deficiency
Cpt2	Carnitine Palmitoyltransferase Deficiency Type 2
Carnitine Palmitoyl Transferase 2 Deficiency	Cpt-Ii
Infantile Carnitine Palmitoyltransferase Ii Deficiency	Late-Onset Carnitine Palmitoyltransferase Ii Deficiency
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyltransferase Ii Deficiency
Cpt2 Deficiency	Cptii
Cpt2, Hepatocardiomuscular Form	Cpt2, Severe Infantile Form
Cptii, Hepatocardiomuscular Form	Cptii, Severe Infantile Form
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form	Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form	Carnitine Palmitoyltransferase 2 Deficiency, Infantile
CPT2DI	Cpt Deficiency, Hepatic, Type Ii
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

King-Denborough Syndrome

King Denborough Syndrome	King Syndrome
Kousseff Nichols Syndrome	KDS
Noonan Like Contracture Myopathy Hyperpyrexia	Anesthetic-Induced Malignant Hyperpyrexia In Children
Koussef-Nichols Syndrome

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

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4	MFM4
Zaspopathy	Myopathy, Myofibrillar, Zasp-Related

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease	Coronary Artery Anomaly
Coronary Artery Disease, Susceptibility To	Myocardial Ischemia
Congenital Anomaly Of Coronary Artery	Coronary Arteriosclerosis
Coronary Disease	Coronary Heart Disease
Coronary Artery Disorder	LPAQTL
Lpa Deficiency, Congenital	Coronary Artery Abnormality
Coronary Artery Anomaly, Congenital	Chd
Coronary Syndrome	Congenital Malformations Of Coronary Vessels
Malformation Of Coronary Vessels	Congenital Coronary Artery Anomaly
Congenital Coronary Artery Deformity	Congenital Coronary Artery Disorder
Abnormal Coronary Artery	Congenital Coronary Artery Malposition
Congenital Coronary Disease	Congenital Anomaly Of Coronary Arteries

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

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

Malignant Hyperthermia

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

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction 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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00666	AMPD1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AMPD1	VGNC	VGNC:69806
Rattus norvegicus	AMPD1	RGD	RGD:2109
Canis familiaris	AMPD1	VGNC	VGNC:37838
Mus musculus	AMPD1	MGD	MGI:88015
Bos taurus	AMPD1	VGNC	VGNC:25873
Felis catus	AMPD1	VGNC	VGNC:67510

Name
Email *

	Sorry, but the email address you supplied was invalid.