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 5, Autosomal Recessive. Among its related pathways are Mitochondrial calcium ion transport and Metabolism of proteins.

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 interactions responsible for substrate engagement, unfolding, transfer across the proteolytic chamber, and proteolysis.

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 mitochondrial-encoded proteins. Mutations in AFG3L2 lead to diseases like slow progressive ataxia, which is a neurological disorder.

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 paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia.

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 metalloprotease complex...

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 isoenzymes or heterooligomeric protein complexes with the …

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 recessive form of hereditary spastic...

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病，包括显性脊髓小脑共济失调（SCA28）28 和常染色体隐性痉挛性共济失调 5（SPAX5）。

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 spinocerebellar ataxia. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.