HGSNAT

Cilia effects upon perturbation of HGSNAT

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.98) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased bone mineral content, decreased total body fat amount, increased circulating phosphate level, enlarged lymph nodes, hydropic degeneration, increased lean body mass, decreased exploration in new environment, decreased circulating serum albumin level, vacuolation, abnormal cholesterol homeostasis, abnormal lung morphology, increased circulating alkaline phosphatase level, increased startle reflex, increased circulating potassium level, enlarged uriry bladder

Mouse ciliopathy phenotype:

short tibia

Human ciliopathy phenotype:

retinitis pigmentosa 73; retinitis pigmentosa

Subcellular localization

cilia associated gene, lysosomes

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the HGSNAT gene cause Retinitis Pigmentosa (PMID: 25859010).