This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012].
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: "Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells." in: Nature methods, Vol. 10, Issue 4, pp. 315-23, (2013) (PubMed).