Crystal structure of the TLDc domain of Skywalker/TBC1D24 from Drosophila melanogaster

Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein.

Jaar van publicatie:2019

Toegankelijkheid:open

Uitgever:Protein Data Bank in Europe

Licentie:CC0-1.0

Formaat:fasta, mmCIF, mtz, pdb, pdf

Disciplines: Structurele biologie

Trefwoorden: TBC1D24, TLDc, epilespy, oxidative stress, Skywalker