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产品信息
PA5-65106
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
偶联物
形式
Liquid
浓度
0.05 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_2664022
产品详细信息
Immunogen sequence: QVAMYSDLPFK SPIRDISYHP FENMVAFCAF GQNEPILLYI YDFHVAQQEA EMFKRYNGTF PLPGIHQSQD ALCTCPKLPH QGSFQIDEFV HTESSSTKMQ LVKQ
Highest antigen sequence identity to the following orthologs - mouse 88%, rat 87%.
靶标信息
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
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生物信息学
蛋白别名: Abelson helper integration site 1 protein homolog; AHI-1; contatins SH3 and WD40 domains; Jouberin; RP1-32B1.2
基因别名: AHI-1; AHI1; dJ71N10.1; JBTS3; ORF1
UniProt ID: (Human) Q8N157
Entrez Gene ID: (Human) 54806
morphogenesis of a polarized epithelium
heart looping
positive regulation of receptor internalization
transmembrane receptor protein tyrosine kinase signaling pathway
central nervous system development
retina layer formation
vesicle-mediated transport
positive regulation of polarized epithelial cell differentiation
hindbrain development
cellular protein localization
cloaca development
photoreceptor cell outer segment organization
pronephric nephron tubule morphogenesis
pronephric duct morphogenesis
cilium assembly
negative regulation of apoptotic process
positive regulation of transcription from RNA polymerase II promoter
regulation of behavior
cilium morphogenesis
specification of axis polarity
Kupffer's vesicle development
left/right axis specification
otic vesicle development
