Presentation Information
[1P-006]Mutations in the proton pump subunit ATP6V1B2 cause aberrant localization of the complex and microcephaly.
*Hsuan Chin Pai1, Eric Hwang1,2,3,4, Tin Han Kuo1, Olha Zahoruiko3, Meng Han Tsai5,6,7 (1. Dept Biol Sci and Technol, Nat’l Yang Ming Chiao Tung Univ, Hsinchu, Taiwan, 2. Inst Mol Med and Bioeng, Nat’l Yang Ming Chiao Tung Univ, Hsinchu, Taiwan, 3. Inst Bioinform and Syst Biol, Nat’l Yang Ming Chiao Tung Univ, Hsinchu, Taiwan, 4. Center for Intell Drug Syst and Smart Bio-devices, Nat’l Yang Ming Chiao Tung Univ, Hsinchu, Taiwan, 5. Dept Neurol, Div of Epilepsy, Kaohsiung Chang Gung Mem Hosp, Kaohsiung, Taiwan, 6. School of Med, Chang Gung Univ, Taoyuan, Taiwan, 7. Dept Med Res, Kaohsiung Chang Gung Mem Hosp, Kaohsiung, Taiwan)
Keywords:
Proton pump,MCPH,Subcellular localization,Brain malformation
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