AMPD3 - adenosine monophosphate deaminase 3 Gene

Homo sapiens

Gene ID: 272 | Gene type: protein coding

About AMPD3

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:10,450,388-10,507,579 (from NCBI)

This gene has 18 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues.

Summary

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated Enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

AMPD3 Products(5)

mRNA	Protein	Name
NM_000480.3	NP_000471.1	AMP deaminase 3 isoform 1A
NM_001025389.2	NP_001020560.1	AMP deaminase 3 isoform 1B
NM_001025390.2	NP_001020561.1	AMP deaminase 3 isoform 1C
NM_001172430.1	NP_001165901.1	AMP deaminase 3 isoform 1B
NM_001172431.2	NP_001165902.1	AMP deaminase 3 isoform 4

AMPD3 Protein Structure

A_deaminase

0
200
400
600
767 a.a.

Protein Preferred Names

Protein Names

AMP deaminase 3

AMP aminohydrolase

Related Diseases

Diseases

Alias

Erythrocyte Amp Deaminase Deficiency

Amp Deaminase Deficiency, Erythrocytic	Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type
AMPDDE	Amp Deaminase Deficiency Erythrocyte Type

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

Disorder Of Purine Metabolism

Purine Metabolism Disorder

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 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

Myoglobinuria

Pontocerebellar Hypoplasia, Type 9

Pontocerebellar Hypoplasia Type 9	PCH9
Pontocerebellar Hypoplasia 9	Hypoplasia, Pontocerebellar, Type 9

Myopathy

Muscular Diseases

Myopathies

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-RS00668	AMPD3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AMPD3	RGD	RGD:2111
Bos taurus	AMPD3	VGNC	VGNC:50189
Felis catus	AMPD3	VGNC	VGNC:67522
Mus musculus	AMPD3	MGD	MGI:1096344
Macaca mulatta	AMPD3	VGNC	VGNC:69808

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