mitochondrial-processing peptidase subunit alpha isoform 1 precursor [ - Protein

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Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy. [Genes (Basel). 2022]
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
Charif M, Chevrollier A, Gueguen N, Kane S, Bris C, Goudenège D, Desquiret-Dumas V, Meunier I, Mochel F, Jeanjean L, et al. Genes (Basel). 2022 Jul 5; 13(7). Epub 2022 Jul 5.
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. [Brain Dev. 2021]
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.
Takahashi Y, Kubota M, Kosaki R, Kosaki K, Ishiguro A. Brain Dev. 2021 Mar; 43(3):464-469. Epub 2020 Dec 1.
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. [Brain. 2016]
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, et al. Brain. 2016 Mar; 139(Pt 3):e19. Epub 2015 Dec 10.

RefSeq genomic sequence
See the genomic reference sequence for the PMPCA gene (NG_046789.1).
RefSeq protein isoforms
See 7 reference sequence protein isoforms for the PMPCA gene.

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NP_055975 [Domain Mapping of Disease Mut...]
NP_055975
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein