TMEM240

Cilia effects upon perturbation of TMEM240

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased fasting circulating glucose level, decreased grip strength, hyperactivity, increased exploration in new environment, increased circulating alkaline phosphatase level, decreased mean platelet volume, abnormal locomotor behavior, decreased anxiety-related response, tremors

Mouse ciliopathy phenotype:

abnormal testis morphology, small testis, abnormal liver morphology

Human ciliopathy phenotype:

spinocerebellar ataxia type 21

Ciliopathy associations

• Spinocerebellar Ataxia

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the TMEM240 gene cause Spinocerebellar Ataxia (PMID: 25070513).