人 APRT (NM_001030018) cDNA克隆

Accession: NM_001030018
基因名称: APRT
基因别名: AMP; APRTD
基因描述: Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA.
种属: Human
CDS区长度: 405 (查看编码区序列)
翻译后氨基酸长度: 134 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
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G117909 人 APRT (NM_001030018) cDNA克隆 pDONR223 2ug质粒 点击询价

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]