KEGG   VARIANT: 7203v1
Entry
7203v1                      Variant                                
Name
CCT3 mutation
Type
Loss of function
Gene
CCT3  T-complex protein 1 subunit gamma isoform a [KO:K09495]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600114
Network
nt06510  Telomere length regulation
Disease
H02843  Brain malformations and seizures by impaired function of TRiC
Reference
  Authors
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Cuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmuller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Hausler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I
  Title
Brain malformations and seizures by impaired chaperonin function of TRiC.
  Journal
Science 386:516-525 (2024)
DOI:10.1126/science.adp8721
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