Primary Identifier | MGI:1928744 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 56491 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including FFAT motif binding activity; protein dimerization activity; and tubulin binding activity. Predicted to be involved in several processes, including IRE1-mediated unfolded protein response; endoplasmic reticulum organization; and modulation by host of viral genome replication. Located in membrane. Is expressed in dorsal root ganglion. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8; autosomal dominant adult-onset proximal spinal muscular atrophy; and spinal muscular atrophy. Orthologous to human VAPB (VAMP associated protein B and C). PHENOTYPE: Homozygous mutant mice exhibited enhanced motor coordination during inverted screen testing. Mice homozygous for another knock-out allele exhibit hypotonia, impaired coordination in older mice and mild tremors. [provided by MGI curators] |