人 ADSL (NM_001123378) cDNA克隆

基本信息

Accession: NM_001123378
基因名称: ADSL
基因别名: ASL; AMPS; ASASE
基因描述: Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1278 (查看编码区序列)
翻译后氨基酸长度: 425 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G106845 人 ADSL (NM_001123378) 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 ADSL (NM_000026) cDNA克隆 transcript variant 1
人 ADSL (NM_001123378) cDNA克隆 transcript variant 2

基因简介

Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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