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Product may be used with Western Blot (Transfected lysate).
The Isotype of this product is composed of an IgG Mixture.
Immunogen sequence: MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQENEDVFV LISPTMEEY
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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