产品展示
Anti-Adenylosuccinate Lyase腺苷酸琥珀酸裂解酶抗体
点击次数：236发布时间：2012/12/26 5:37:11
更新日期：2024/9/5 14:43:27
所 在 地：其它
产品型号：BY-6352R
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详细内容
货号：BY-6352R
英文名称：Anti-Adenylosuccinate Lyase
中文名称：腺苷酸琥珀酸裂解酶抗体
其他名称：Adenylosuccinase; Adenylosuccinate lyase; ADSL; AMPS; ASase; ASL; PUR8_HUMAN.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 55kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat, dog, hrs, pig, cow
产品介绍：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].Tissue Specificity : Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.DISEASE : Defects in ADSL are the cause of adenylosuccinase deficiency （ADSL deficiency） . ADSL deficiency is an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside （SAICA-riboside） ａnd succinyladenosine （S-Ado）. Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation ａnd muscular wasting are also present.Similarity : Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.
