RecName: Full=Mitochondrial inner membrane m-AAA protease component AF - Protein

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Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5. [Brain. 2024]
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Franchino CA, Brughera M, Baderna V, De Ritis D, Rocco A, Seneca S, Regal L, Podini P, D'Antonio M, Toro C, et al. Brain. 2024 Mar 1; 147(3):1043-1056.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients. [Cerebellum. 2023]
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, et al. Cerebellum. 2023 Dec; 22(6):1313-1319. Epub 2022 Nov 30.
Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis. [Hum Mol Genet. 2022]
Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.
Ng KY, Richter U, Jackson CB, Seneca S, Battersby BJ. Hum Mol Genet. 2022 Apr 22; 31(8):1230-1241.

RefSeq genomic sequence
See the genomic reference sequence for the AFG3L2 gene (NG_023361.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the AFG3L2 gene.

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Q9Y4W6 [Domain Mapping of Disease Mut...]
Q9Y4W6
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein