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. UHMK1 is also implicated in the progression of many cancers such as
gastric,[11]liver,[12]colorectal,[13]cervical[14] and
leukemia.[15]
^Bièche I, Manceau V, Curmi PA, Laurendeau I, Lachkar S, Leroy K, Vidaud D, Sobel A, Maucuer A (May 2003). "Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human". Brain Research. Molecular Brain Research. 114 (1): 55–64.
doi:
10.1016/S0169-328X(03)00132-3.
PMID12782393.
^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.
S2CID26013777.
Bièche I, Manceau V, Curmi PA, et al. (2003). "Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human". Brain Res. Mol. Brain Res. 114 (1): 55–64.
doi:
10.1016/S0169-328X(03)00132-3.
PMID12782393.
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. UHMK1 is also implicated in the progression of many cancers such as
gastric,[11]liver,[12]colorectal,[13]cervical[14] and
leukemia.[15]
^Bièche I, Manceau V, Curmi PA, Laurendeau I, Lachkar S, Leroy K, Vidaud D, Sobel A, Maucuer A (May 2003). "Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human". Brain Research. Molecular Brain Research. 114 (1): 55–64.
doi:
10.1016/S0169-328X(03)00132-3.
PMID12782393.
^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.
S2CID26013777.
Bièche I, Manceau V, Curmi PA, et al. (2003). "Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human". Brain Res. Mol. Brain Res. 114 (1): 55–64.
doi:
10.1016/S0169-328X(03)00132-3.
PMID12782393.