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

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

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

中文名称：5',3'-核苷酸酶，线粒体

种属: Homo sapiens

同用名: mdN; dNT2; dNT-2

基因 ID: 56953 | 基因类型: protein coding

关于 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.

功能概要

该基因编码定位于线粒体基质的 5' 核苷酸酶。该酶使尿嘧啶和胸腺嘧啶脱氧核糖核苷酸的 5'- 和 2' (3') - 磷酸盐去磷酸化。该基因位于 17 号染色体上的 Smith-Magenis 综合征区域内。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

NT5M 蛋白结构

NT5C

NT5C: 5' nucleotidase, deoxy (Pyrimidine), cytosolic type C protein (NT5C) (34 - 226)

  • 0
  • 100
  • 200
  • 228 a.a.
蛋白主名 其他名称

5'(3')-deoxyribonucleotidase, mitochondrial

5' nucleotidase, mitochondrial

关联疾病

疾病名称 别名
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
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-RS09615 NT5M Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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