Kentrup H, Joost H G, Heimann G, Becker W
Kinderklinik, Universitätsklinikums der RWTH Aachen.
Klin Padiatr. 2000 Mar-Apr;212(2):60-3. doi: 10.1055/s-2000-9653.
DYRK1A is the first member of a novel subfamily of protein kinases with dual specificity. The human gene for DYRK1A is located in the "Down syndrome critical region" (21q22.2). Due to its relationship to the Drosophila gene minibrain (Mnb), whose mutation results in specific defects in neurogenesis, and based on functional experiments on transgenic mice, DYRK1A is discussed as a candidate gene for mental retardation in Down syndrome. The kinase is characterized by its ability to catalyze tyrosine-directed autophosphorylation as well as phosphorylation of serine/threonine residues in substrates. Its exact cellular function is yet unknown. DYRK1A is, however, known to be translocated into the nucleus and supposed to be involved in the control of cell growth and development. The pathogenetic impact of DYRK1A on Down syndrome needs further elucidation.
DYRK1A是具有双重特异性的新型蛋白激酶亚家族的首个成员。人类DYRK1A基因位于“唐氏综合征关键区域”（21q22.2）。由于其与果蝇小头脑基因（Mnb）相关，该基因的突变会导致神经发生的特定缺陷，并且基于对转基因小鼠的功能实验，DYRK1A被认为是唐氏综合征智力低下的候选基因。该激酶的特点是能够催化酪氨酸定向的自身磷酸化以及底物中丝氨酸/苏氨酸残基的磷酸化。其确切的细胞功能尚不清楚。然而，已知DYRK1A会转移到细胞核中，并被认为参与细胞生长和发育的调控。DYRK1A对唐氏综合征的致病影响需要进一步阐明。
