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  2. DPYS - dihydropyrimidinase Gene

DPYS - dihydropyrimidinase Gene

中文名称:二氢嘧啶酶

种属: Homo sapiens

同用名: DHP; DHPase

基因 ID: 1807 | 基因类型: protein coding

关于 DPYS

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:104,379,431-104,467,055 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 34.3) and kidney (RPKM 29.7).

功能概要

二氢嘧啶酶在嘧啶代谢中催化 5,6-二氢尿嘧啶转化为 3-脲基丙酸。二氢嘧啶酶在肝脏和肾脏中以高水平表达,作为主要的 2.5-kb 转录物和次要的 3.8-kb 转录物。 DPYS 基因的缺陷与二氢嘧啶尿症有关。[RefSeq 提供,2008 年 7 月]

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]

DPYS 基因产物(1)

mRNA Protein Name
NM_001385.3 NP_001376.1 dihydropyrimidinase

DPYS 蛋白结构

Amidohydro_1

Amidohydro_1: Amidohydrolase family (59 - 407)

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  • 519 a.a.
蛋白主名 其他名称

dihydropyrimidinase

dihydropyrimidine amidohydrolase

重组 DPYS 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75713 DPYS Protein, Human (sf9) Q14117 (N-G&P, M1-P519) ≥95%
HY-P75714 DPYS Protein, Human (sf9, His-GST) Q14117 (M1-P519) ≥95%

关联疾病

疾病名称 别名
Dihydropyrimidinase Deficiency

Dihydropyrimidinuria

Dpys Deficiency

Dph Deficiency

DPYSD

Dihydrouracil Amidohydrolase Deficiency

Dihydropyrimidinuria Due To Dpys Deficiency

Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency

Familial Pyrimidinemia

Hereditary Thymine-Uraciluria

Dihydropyrimidinuria

Dpyd Deficiency

Thymine-Uraciluria, Hereditary

Pyrimidinemia, Familial

5-Fluorouracil Toxicity

Dihydrouracil Dehydrogenase Deficiency

Familial Pyrimidinaemia

Thymine-Uracilurea

Familial Pyrimidemia

Pyrimidinemia Familial

DPYDD

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris DPYS VGNC VGNC:40082
Mus musculus DPYS MGD MGI:1928679
Bos taurus DPYS VGNC VGNC:28194
Macaca mulatta DPYS VGNC VGNC:71983
Felis catus DPYS VGNC VGNC:61614
Rattus norvegicus DPYS RGD RGD:68376
Others DPYS NCBI