腺苷酸琥珀酸裂解酶抗体
规格：1尘驳/1尘濒
英文名： Adenylosuccinate Lyase
别名： Adenylosuccinase; Adenylosuccinate lyase; ADSL; AMPS; ASase; ASL; PUR8_HUMAN.
分子量： 55kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Adenylos
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse,
细胞定位：
腺苷酸琥珀酸裂解酶抗体产物介绍：background: 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腺苷酸琥珀酸裂解酶抗体 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 腺苷酸琥珀酸裂解酶抗体present. Similarity: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. Gene ID: 158 Database links: Entrez Gene: 158 Human Entrez Gene: 11564 Mouse Entrez Gene: 315150 Rat Omim: 608222 Human SwissProt: P30566 Human SwissProt: P54822 Mouse Unigene: 75527 Human Unigene: 38151 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
腺苷酸琥珀酸裂解酶抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid