NT5M - 5',3'-nucleotidase, mitochondrial Gene

Homo sapiens

Also known as mdN; dNT2; dNT-2

Gene ID: 56953 | Gene type: protein coding

About NT5M

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,303,373-17,347,663 (from NCBI)

This gene has 7 transcripts (splice variants), 186 orthologues and 1 paralogue. Broad expression in testis (RPKM 2.8), bone marrow (RPKM 2.2) and 23 other tissues.

Summary

This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This Enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

NT5M Products(1)

mRNA	Protein	Name
NM_020201.4	NP_064586.1	5'(3')-deoxyribonucleotidase, mitochondrial precursor

NT5M Protein Structure

NT5C

0
100
200
228 a.a.

Protein Preferred Names

Protein Names

5'(3')-deoxyribonucleotidase, mitochondrial

5' nucleotidase, mitochondrial

Related Diseases

Diseases

Alias

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

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-RS09615	NT5M Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NT5M	VGNC	VGNC:99312
Bos taurus	NT5M	VGNC	VGNC:32297
Mus musculus	NT5M	MGD	MGI:1917127
Rattus norvegicus	NT5M	RGD	RGD:1309622
Canis familiaris	NT5M	VGNC	VGNC:44001
Macaca mulatta	NT5M	VGNC	VGNC:99192

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