产品说明
一般描述
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. (provided by RefSeq)
免疫原
AHI1 (AAH94800.1, 1 a.a. ~ 609 a.a) full-length human protein.
Sequence
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQENEDVFVLISPTMEEY
外形
Solution in phosphate buffered saline, pH 7.4
基本信息
| MDL编号 | MFCD01633623 |
| NACRES | NA.41 |
产品性质
| 生物来源 | mouse |
| 偶联物 | unconjugated |
| 抗体形式 | IgG fraction of antiserum |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| species reactivity | human |
| technique(s) | western blot: 1 μg/mL |
| UniProt登记号 | Q8N157 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... AHI1(54806) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
