Citations for
1PMPCA, PMPCAD
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB.
Cold Spring Harb Mol Case Stud 2(3):a000786. doi: 10.1101/mcs.a000786. 2016
2PMPCA, SCA9
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, Tétreault M.
Brain 139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10. No abstract available. 2016
3PMPCA, SCA9
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.
Brain 138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25. 2015
4MPP1, PMPCA
Functional cooperation of the mitochondrial processing peptidase subunits.
Luciano P, Geoffroy S, Brandt A, Hernandez JF, Géli V.
J Mol Biol 272(2):213-25. 1997
5ARID4B, BOP1, CACNA2D2, CCT5, CKAP5, CTR9, DCLRE1A, DGKD, DHX34, EIF3A, EIF4A3, EMC1, EMC2, EXOSC7, FAM175B, FAM53B, GANAB, GGA3, GIT2, GPD1L, INPP5E, KEAP1, KIAA0082, KIAA0087, KIAA0114, KIAA0125, KIAA0141, MAD2L1BP, MBTPS1, METAP1, MORC3, NCAPD2, NUP93, OEATC1, PASK, PMPCA, PRDX6, PSMD6, PUM1, RBM10, SAFB2, SART3, SCRIB, SERTAD2, SNRK, SPCS2, TAGLN2, THRAP4, TRIM14, TTLL12, UBAP2L, UBE4A, URB2, ZC3H3
Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S,Ishikawa K, Kawarabayasi Y, Kotani H, et al.
DNA Res 2(1):37-43. 1995