Primary Identifier | MGI:1333798 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 11567 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable Arp2/3 complex binding activity; actin filament binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in positive regulation of neuron projection development. Predicted to be located in several cellular components, including actin filament; focal adhesion; and lamellipodium. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in several structures, including eye; forelimb; nervous system; skin; and tongue papillae. Human ortholog(s) of this gene implicated in nephrotic syndrome type 21. Orthologous to human AVIL (advillin). PHENOTYPE: Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult. The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice. [provided by MGI curators] |