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

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A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports. [BMC Neurol. 2022]
A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
Wang S, Wang Y, Wu Y, Zhang J, Zhang W, Li C, Song X. BMC Neurol. 2022 May 30; 22(1):200. Epub 2022 May 30.
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy. [Am J Ophthalmol Case Rep. 2022]
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.
Eriksen KO, Wigers AR, Wedding IM, Erichsen AK, Barøy T, Søberg K, Jørstad ØK. Am J Ophthalmol Case Rep. 2022 Jun; 26:101400. Epub 2022 Feb 16.
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations. [J Neurol Sci. 2021]
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R, Campins-Romeu M, Carretero-Vilarroig L, Sastre-Bataller I, Martínez-Torres I, Vázquez-Costa JF, Muelas N, Sevilla T, Vílchez JJ, Aller E, et al. J Neurol Sci. 2021 Oct 15; 429:118062. Epub 2021 Aug 30.

RefSeq genomic sequence
See the genomic reference sequence for the SPG7 gene (NG_008082.1).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the SPG7 gene.

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Q9UQ90 [Domain Mapping of Disease Mut...]
Q9UQ90
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

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Protein