生物来源
mouse
质量水平
偶联物
unconjugated
抗体形式
purified immunoglobulin
抗体产品类型
primary antibodies
克隆
2C12, monoclonal
形式
buffered aqueous solution
种属反应性
human
技术
indirect ELISA: suitable
western blot: 1-5 μg/mL
同位素/亚型
IgG2aκ
GenBank登记号
UniProt登记号
运输
dry ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... PAFAH1B1(5048)
一般描述
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. (provided by RefSeq)
免疫原
PAFAH1B1 (NP_000421, 1 a.a. ~ 110 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSP
Sequence
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSP
生化/生理作用
PAFAH1B1 (Platelet activating factor acetyl hydrolase 1b regulatory subunit 1) majorly participates in the neuronal migration pathway during brain development. It is a non-catalytic regulatory subunit of platelet activating factor (PAF) acetyl hydrolase 1b (Pafah1b) complex. During neuronal migration, it conjugates with PAFAH1B2 and PAFAH1B3 to control the concentration of platelet activating factor in the brain. Deleted gene expression of PAFAH1B1 has been reported in the 7p13.3 deletion syndrome or Miller-Dieker syndrome with mental retardation and facial dysmorphism. Heterozygous mutations of the gene cause type 1 lissencephaly characterized with impaired neuronal migration and reduction in the number of cortical gyri.
外形
Solution in phosphate buffered saline, pH 7.4
法律信息
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闪点(°F)
Not applicable
闪点(°C)
Not applicable
个人防护装备
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
法规信息
新产品
Manuel Schiff et al.
European journal of medical genetics, 53(5), 303-308 (2010-07-06)
The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to
Amir H Assadi et al.
Neuroscience letters, 439(1), 100-105 (2008-06-03)
Reelin, an extracellular protein that signals through the Dab1 adapter protein, and Lis1 regulate neuronal migration and cellular layer formation in the brain. Loss of Reelin and reduction in Lis1 activity in mice or humans results in the disorganization of
Carlos Cardoso et al.
Human mutation, 19(1), 4-15 (2001-12-26)
Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical malformations secondary to abnormal migration of neurons during early brain development. Approximately 60% of patients with classical LIS, and one patient with atypical SBH have been found to have
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