人 PRPS1 (NM_001204402) cDNA克隆

基本信息

Accession: NM_001204402
基因名称: PRPS1
基因别名: ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP
基因描述: Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 345 (查看编码区序列)
翻译后氨基酸长度: 114 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G109643 人 PRPS1 (NM_001204402) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 PRPS1 (NM_002764) cDNA克隆 transcript variant 1
人 PRPS1 (NM_001204402) cDNA克隆 transcript variant 2

基因简介

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

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