Primary Identifier | MGI:108559 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 11426 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP hydrolysis activity; actin binding activity; and microtubule binding activity. Involved in several processes, including positive regulation of Wnt signaling pathway; regulation of focal adhesion assembly; and regulation of neuron projection arborization. Acts upstream of or within several processes, including Wnt signaling pathway; mesoderm formation; and post-translational protein targeting to endoplasmic reticulum membrane. Located in cytoplasm; cytoskeleton; and postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; limb segment; lung; and skeletal musculature. Human ortholog(s) of this gene implicated in lissencephaly 9 with complex brainstem malformation. Orthologous to human MACF1 (microtubule actin crosslinking factor 1). PHENOTYPE: Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality. [provided by MGI curators] |