- accession:NM_001030018
- 基因别名:APRT
- 基因描述:Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:405
- 翻译后氨基酸长度:134
- TranscriptVariant: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.
- 基因简介: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]
- 规格:10ul 质粒
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