人 APRT (NM_000485) cDNA克隆

Accession: NM_000485
基因名称: APRT
基因别名: AMP; APRTD
基因描述: Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.
种属: Human
CDS区长度: 543 (查看编码区序列)
翻译后氨基酸长度: 180 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
产品编号 产品名称 载体 规格 价格
G117908 人 APRT (NM_000485) 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]