TDP1

Cilia effects upon perturbation of TDP1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.99) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

increased red blood cell distribution width, enlarged lymph nodes, decreased mean corpuscular volume, increased mean corpuscular hemoglobin concentration, decreased exploration in new environment

Human ciliopathy phenotype:

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the TDP1 gene cause Spinocerebellar Ataxia (PMID: 12244316).