UHMK1 is highly expressed in the brain and has been genetically implicated in schizophrenia in two genetic studies.[8][9] Mice with the gene encoding stathmin knocked out, so that they do not express this protein in the brain, show abnormal fear responses. This effect could be developed as an animal model for schizophrenia.[10] UHMK1 also phosphorylates the CNS proteins myelin basic protein (MBP) and synapsin I so that genetic abnormalities in UHMK1 could contribute to the genetic cause of schizophrenia through several different brain pathways.
^Puri V, McQuillin A, Choudhury K, et al. (2007). "Fine mapping by genetic association implicates the chromosome 1q23.3 gene UHMK1, encoding a serine/threonine protein kinase, as a novel schizophrenia susceptibility gene". Biol. Psychiatry. 61 (7): 873–9. doi:10.1016/j.biopsych.2006.06.014. PMID16978587.
^Puri V, McQuillin A, Datta S, Choudhury K, Pimm J, Thirumalai S, Krasucki R, Lawrence J, Quested D, Bass N, Crombie C, Fraser G, Walker N, Moorey H, Ray MK, Sule A, Curtis D, St Clair D, Gurling H (October 2008). "Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3". European Journal of Human Genetics. 16 (10): 1275–82. doi:10.1038/ejhg.2008.76. PMID18414510.
^Shumyatsky GP, Malleret G, Shin RM, Takizawa S, Tully K, Tsvetkov E, Zakharenko SS, Joseph J, Vronskaya S, Yin D, Schubart UK, Kandel ER, Bolshakov VY (November 2005). "stathmin, a gene enriched in the amygdala, controls both learned and innate fear". Cell. 123 (4): 697–709. doi:10.1016/j.cell.2005.08.038. PMID16286011.