Primary Identifier | MGI:107745 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 13191 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Acts upstream of or within melanosome transport. Located in cell leading edge and microtubule cytoskeleton. Part of protein-containing complex. Is expressed in brain; cerebral cortex ventricular layer; cortical plate; embryo; and head. Human ortholog(s) of this gene implicated in Perry syndrome; amyotrophic lateral sclerosis type 1; and autosomal dominant distal hereditary motor neuronopathy 14. Orthologous to human DCTN1 (dynactin subunit 1). PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. [provided by MGI curators] |