SNCAIP

Phenotypes

Mouse phenotype:

Sph1 knockout mice: early-onset hydrocephalus, severe loss and disorganisation of motile ependymal cilia, ventricular enlargement, disrupted ependymal architecture, mislocalised acetylated α-tubulin, aberrant mitochondria. Lifespan, motor performance, learning, anxiety, and gross brain morphology unaffected (Farhoud et al. 2026).

Mouse ciliopathy phenotype:

Hydrocephalus + motile ependymal cilia loss — phenotype consistent with motile ciliopathy in mouse model (Farhoud et al. 2026).

Subcellular localization

cilia associated gene, cytoplasm

Functional category

• Microtubule organisation
• Motile ciliogenesis (ependymal)
• α-Synuclein interaction

Function

Synphilin-1 interacts with α-synuclein, localises to Lewy bodies, and is implicated in Parkinson disease pathology. Sph1 knockout mice (Farhoud et al. 2026) show early-onset hydrocephalus, severe loss and disorganisation of motile ependymal cilia in the ventricular lining, mislocalisation of acetylated α-tubulin to the cytoplasm, and aberrant mitochondria. The KO phenotype identifies synphilin-1 as required for microtubule organisation and motile ciliogenesis in ependymal cells. *Note: no human disease has yet been linked to SNCAIP loss-of-function; the ciliary phenotype is entirely model-organism evidence from a single recent paper.*