PHYHIPL, or phytanoyl-CoA hydroxylase-interacting protein-like, is a gene whose function was initially unknown. Its expression is altered in conditions like global ischemia, glioblastoma multiforme, and intrahepatic cholangiocarcinoma. It may be involved in cell metabolism based on protein-protein interactions (PPI) net analysis, and potentially in pathways such as TNF signaling, IL-17 signaling, retrograde endocannabinoid signaling, and cAMP signaling [2].

PHYHIPL Ser19Stop knock-in mice were generated to study its function. The results showed that PHYHIPL impacts the morphology of cerebellar Purkinje cells (PCs), the innervation of climbing fibers to PCs, the inhibitory inputs to PCs from molecular layer interneurons, and motor learning ability. This indicates that the Ser19Stop SNP of the PHYHIPL gene may be associated with cerebellum-related diseases [1].

In conclusion, through the use of mouse models, PHYHIPL has been shown to play a role in cerebellar-related biological processes, potentially having implications for cerebellum-related diseases. Additionally, its altered expression in various cancers suggests it may be involved in cancer-related mechanisms, highlighting its importance in understanding both neurological and cancer-related pathologies.