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 7.3.0) 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. Predicted to act upstream of or within response to unfolded protein. 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] |