Tomemori Y, Ichiba M, Kusumoto A, Mizuno E, Sato D, Muroya S, Nakamura M, Kawaguchi H, Yoshida H, Ueno S, Nakao K, Nakamura K, Aiba A, Katsuki M, Sano A, A gene-targeted mouse model for chorea-acanthocytosis. J Neurochem. 2005 Feb;92(4):759-66 ...
VPS13AMovement disordersACANTHOCYTOSISPROTEINBackground Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely ...
Alternative splicing of this gene results in multiple transcript variants. 经x线晶体衍射结构分析发现,Ig由四条多肽链组成,各肽链之间由数量不等的链间二硫键连接。Ig可形成“Y"字型结构,称为Ig单体,是构成抗体的基本单位。 天然Ig分子含有四条异源性多肽链,其中,分子量较大的两条链称为重链(heavy chain,H...
Ensembl Gene IDENSG00000197969.14 Ensembl mRNA IDVPS13A-202 包装清单: 产品编号产品名称包装 QH35165SHuman VPS13A qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。
Chorein is the protein encoded by gene VPS13A which is altered in chorea-acanthocytosis (ChAc). It belongs to the VPS13 protein family which, in mammals, has three other members: VPS13B, VPS13C and VPS13D. These proteins are similar to V... B Bader,C Dobson-Stone,A Monaco,... ...
背景信息: Chorein may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants...
Entrez Gene ID:(Human) 23230 功能 protein bindingmembrane traffic protein 参与通路 protein targeting to vacuoleGolgi to endosome transportautophagynervous system developmentlocomotory behaviorprotein localizationsocial behaviorprotein retention in Golgi apparatus...
HA-GLUT4 endocytosis, gene transcription and AMPK signalling are unaffected in myotubes depleted of VPS13A or VPS13C To determine whether the effect of VPS13A and VPS13C knockdown was related to transcription of the GLUT4 gene, we examined HA-GLUT4 mRNA transcript levels (Fig. 5a) and found...
HA-GLUT4 endocytosis, gene transcription and AMPK signalling are unaffected in myotubes depleted of VPS13A or VPS13C To determine whether the effect of VPS13A and VPS13C knockdown was related to transcription of the GLUT4 gene, we examined HA-GLUT4 mRNA transcript levels (Fig. 5a) and found...
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation M, Sano A, Helbig I, Berkovic SF, Blatt I: Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del vps13a gene mutation... Blatt,Ilan,Korczyn,... - 《Ep...