GOLGA3

Cilia effects upon perturbation of GOLGA3

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:

impaired glucose tolerance, increased circulating alkaline phosphatase level, decreased hemoglobin content

Mouse ciliopathy phenotype:

increased circulating aspartate transamise level, increased circulating alanine transamise level, male infertility

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Mutations in the GOLGA3 gene cause Primary Ciliary Dyskinesia (PMID: 32367404).

Model organism evidence