Primary Identifier | MGI:1921241 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 73991 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity; GTPase activity; and identical protein binding activity. Predicted to be involved in axonogenesis; endoplasmic reticulum tubular network membrane organization; and protein homooligomerization. Located in endoplasmic reticulum tubular network. Is expressed in cerebral cortex; cortical layer V; and cortical plate. Human ortholog(s) of this gene implicated in hereditary sensory neuropathy type 1D and hereditary spastic paraplegia 3A. Orthologous to human ATL1 (atlastin GTPase 1). PHENOTYPE: Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. [provided by MGI curators] |