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Literature summary for 3.4.24.64 extracted from

  • Joshi, M.; Anselm, I.; Shi, J.; Bale, T.A.; Towne, M.; Schmitz-Abe, K.; Crowley, L.; Giani, F.C.; Kazerounian, S.; Markianos, K.; Lidov, H.G.; Folkerth, R.; Sankaran, V.G.; Agrawal, P.B.
    Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-alpha protein (PMPCA) cause a severe mitochondrial disease (2016), Cold Spring Harb. Mol. Case Stud., 2, a000786 .
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q10713 Q10713: mitochondrial-processing peptidase subunit alpha
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Synonyms

Synonyms Comment Organism
mitochondrial processing peptidase-alpha protein
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 Homo sapiens
PMPCA
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 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-alpha protein (PMPCA) cause a severe mitochondrial disease Homo sapiens