TGM6

Cilia effects upon perturbation of TGM6

Ciliogenesis screen results (5 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.42, ciliated=19.1%) PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.71) PMID:20393562

Phenotypes

Mouse phenotype:

decreased circulating serum albumin level, increased lean body mass, improved glucose tolerance

Mouse ciliopathy phenotype:

persistence of hyaloid vascular system

Human ciliopathy phenotype:

spinocerebellar ataxia type 35

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the TGM6 gene cause Spinocerebellar Ataxia (PMID: 21106500, 22554020).