The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013].
Carpp, Rogers, Moritz, Aitchison: "Quantitative proteomic analysis of host-virus interactions reveals a role for GBF1 in dengue infection." in: Molecular & cellular proteomics : MCP, (2014) (PubMed).
Diggle, Moore, Mali, zur Lage, Ait-Lounis, Schmidts, Shoemark, Garcia Munoz, Halachev, Gautier, Yeyati, Bonthron, Carr, Hayward, Markham, Hope, von Kriegsheim, Mitchison, Jackson, Durand, Reith et al.: "HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. ..." in: PLoS genetics, Vol. 10, Issue 9, pp. e1004577, (2014) (PubMed).