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产品信息
PA5-64248
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
偶联物
形式
Liquid
浓度
0.1 mg/mL
纯化类型
Antigen affinity chromatography
保存液
PBS, pH 7.2, with 40% glycerol
内含物
0.02% sodium azide
保存条件
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
运输条件
Wet ice
RRID
AB_2642734
产品详细信息
Immunogen sequence: GKDTYDSTSK QRTPSYTDRV LYRSRHKGDI CPVSYSSCPG IKTSDHRPVY GLFRVKVRPG RDNIPLAAGK FDRELYLLGI KRRISKEIQR QQALQSQNSS TICSVS
Highest antigen sequence identity to the following orthologs: Mouse - 90%, Rat - 91%.
靶标信息
INPP5E (inositol polyphosphate 5-phosphatase), also known as phosphatidylinositol polyphosphate 5-phosphatase type IV, is a 644 amino acid peripheral membrane protein associated with Golgi stacks. Belonging to the inositol-1, 4, 5-trisphosphate 5-phosphatase type IV family, INPP5E converts phosphatidylinositol-3, 4, 5-triphosphate (PtdIns 3, 4, 5-P3) to PtdIns-P2. While inactive towards water soluble inositol phosphates, the activity of INPP5E is specific for lipid substrates. INPP5E becomes phosphorylated upon DNA damage and is expressed in brain, heart, pancreas, testis and spleen. Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1), a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. In addition, mutations in the INPP5E gene may lead to mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS), an autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males.
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生物信息学
蛋白别名: 72 kDa inositol polyphosphate 5-phosphatase; Inositol polyphosphate-5-phosphatase E; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase
基因别名: CORS1; CPD4; INPP5E; JBTS1; MORMS; PPI5PIV
UniProt ID: (Human) Q9NRR6
Entrez Gene ID: (Human) 56623
