Tbc1d23

Summary

Gene Symbol: Tbc1d23
Description: TBC1 domain family, member 23
Alias: RGD1307925, TBC1 domain family member 23
Species: rat
Products:     Tbc1d23

Top Publications

  1. De Arras L, Yang I, Lackford B, Riches D, Prekeris R, Freedman J, et al. Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP. J Immunol. 2012;188:2905-13 pubmed publisher
    We previously identified Tbc1d23 as a candidate novel regulator of innate immunity using comparative genomics RNA interference screens in Caenorhabditis elegans and mouse macrophages...
  2. Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
    ..Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly...
  3. Shin J, Gillingham A, Begum F, Chadwick J, Munro S. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. Nat Cell Biol. 2017;19:1424-1432 pubmed publisher
    ..By applying proximity biotinylation to the golgin-captured vesicles, we identify TBC1D23, an apparently catalytically inactive member of a family of Rab GTPase-activating proteins (GAPs), as a vesicle-..
  4. Marin Valencia I, Gerondopoulos A, Zaki M, Ben Omran T, Almureikhi M, Demir E, et al. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. Am J Hum Genet. 2017;101:441-450 pubmed publisher
    ..Here, we report biallelic TBC1D23 mutations in six individuals from four unrelated families manifesting a non-degenerative form of PCH...