ELOVL5

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.45) 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:

decreased locomotor activity, increased total body fat amount, abnormal iris morphology, decreased heart weight, decreased vertical activity, decreased exploration in new environment, increased mean platelet volume, shortened qt interval, impaired pupillary reflex, decreased lean body mass, increased circulating hdl cholesterol level, shortened pr interval, increased fasting circulating glucose level, abnormal bone structure, abnormal cholesterol homeostasis, decreased red blood cell distribution width, decreased bone mineral content, increased circulating alkaline phosphatase level

Human ciliopathy phenotype:

Spinocerebellar ataxia type 38

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the ELOVL5 gene cause Spinocerebellar Ataxia (PMID: 25065913).