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Immunogen sequence: MPTAESEAK VKTKVRFEEL LKTHSDLMRE KKKLKKKLVR SEENISPDTI RSNLHYMKET TSDDPDTIRS NLPHIKETTS DDVSAANTNN LKKSTRVTKN KLRNTQLATE NPNGDASVEE DKQGKPNKKV IKTVPQLTTQ DLKPETPENK VDSTHQKTHT KPQPGVDHQK SEKANEGREE TDLEEDEELM QAYQCHVTEE MAKEIKRKIR KKLKEQLTYF PSDTLFHDDK LSSEKRKKKK EVPVFSKAET STLTISGDTV EGEQKKESSV RSVSSDSHQD DEISSMEQST EDSMQDDTKP KPKKTKKKTK AVADNNEDVD GDGVHEITSR DSPVYPKCLL DDDLVLGVYI H (1-350 aa encoded by BC094800)
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; Abelson helper integration site 1 protein homolog; AHI-1; contatins SH3 and WD40 domains; Jouberin; RP1-32B1.2
基因别名: 1700015F03Rik; AHI-1; AHI1; D10Bwg0629e; dJ71N10.1; JBTS3; ORF1
UniProt ID: (Human) Q8N157
Entrez Gene ID: (Human) 54806, (Mouse) 52906