2024年12月24日 · AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) is a Protein Coding gene. Diseases associated with AFG3L2 include Spinocerebellar Ataxia 28 and Spastic Ataxia …

2019年9月5日 · Here, we present an atomic model of the human AFG3L2 homohexameric m-AAA protease trapped in the act of processing substrate, revealing the network of molecular …

2024年7月17日 · AFG3L2 encodes a deduced 797-amino acid protein whose sequence shows 69% similarity to the yeast Afg3 mitochondrial ATPase and 49% identity to paraplegin.

2023年11月28日 · AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial membrane involved in mitochondrial quality control of several nuclear- and …

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) is a protein that in humans is encoded by the AFG3L2 gene. [5] This gene encodes a protein localized in mitochondria and closely related to …

2010年3月7日 · Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m -AAA …

2024年12月1日 · AFG3-like matrix AAA peptidase subunit 2 (AFG3L2) is a constituent of the mitochondrial matrix m -AAA complex. 3 The AFG3L2 subunit can form homooligomeric …

2018年2月16日 · Mutations in AFG3L2 are associated with dominant spinocerebellar ataxia (SCA28) characterized by the loss of Purkinje cells, whereas mutations in SPG7 cause a …

Western blot和 qPCR 证实了在相应的 CRISPR KOs 中成功地消耗了 AFG3L2 和 ABCB7。 AFG3L2 是线粒体内膜 m-AAA 蛋白酶的亚基，其催化位点面向基质，其突变可导致神经系统疾 …

2025年2月9日 · AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive …