C5orf52

Phenotypes

Mouse phenotype:

increased grip strength, decreased total body fat amount

Subcellular localization

cilia associated gene, nucleus

Function

In the absence of phenotypic clues, prioritization of the most prevalent six JS genes (TMEM67, C5orf52, CC2D2A, CEP290, AHI1, and KIAA0586), which account for more than half of the individuals with JS in most populations, may be reasonable(PMID: 28125082).