Recombinant Human AFG3-like protein 2(AFG3L2),partial

1. Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. PMID: 25251419
2. AOA2 with myoclonus associated with mutations in SETX and AFG3L2 PMID: 25927548
3. This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maintenance. PMID: 25420100
4. StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin. PMID: 24422629
5. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. PMID: 24293060
6. Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism. PMID: 24814845
7. Both full-length and truncated COX1 proteins physically interact with AFG3L2. PMID: 22252130
8. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID: 22022284
9. The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations. PMID: 21827917
10. We further confirm both the involvement of AFG3L2 gene in Spinocerebellar ataxia type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16. PMID: 20725928
11. in spinocerebellar ataxia type 28 patients study found novel missense mutation at an evolutionarily conserved amino-acid position; amino-acid exchange p.E700K was detected in a 4-generation family and was not observed in chromosomes of controls PMID: 20354562
12. work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration. PMID: 20208537
13. An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease AGG3L2. PMID: 19748354

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HGNC: 315

OMIM: 604581

KEGG: hsa:10939

STRING: 9606.ENSP00000269143

UniGene: Hs.726355