Primary Identifier | MGI:1330299 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 13548 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity; protein serine/threonine kinase activity; and tau protein binding activity. Involved in several processes, including negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of microtubule polymerization; and protein phosphorylation. Acts upstream of or within negative regulation of mRNA splicing, via spliceosome and peptidyl-tyrosine phosphorylation. Located in several cellular components, including axon; cytoskeleton; and dendrite. Part of ribonucleoprotein complex. Is expressed in several structures, including alimentary system; genitourinary system; immune system; nervous system; and sensory organ. Used to study Down syndrome and autosomal dominant intellectual developmental disorder 7. Human ortholog(s) of this gene implicated in Down syndrome; autism spectrum disorder; autosomal dominant intellectual developmental disorder 7; and intellectual disability. Orthologous to human DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A). PHENOTYPE: Mice homozygous for a targeted deletion present a general embryonic growth delay and die during midgestation. Heterozygotes display reduced postnatal survival, postnatal growth retardation, microcephaly, behavioral and motor deficits, and altered neocortical pyramidal cell morphology. [provided by MGI curators] |