Primary Identifier | MGI:1932040 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 81500 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable adenyl-nucleotide exchange factor activity and identical protein binding activity. Predicted to be involved in protein transport. Located in endoplasmic reticulum. Is expressed in brain; chondrocranium; eye; pancreas; and testis. Human ortholog(s) of this gene implicated in primary cerebellar degeneration. Orthologous to human SIL1 (SIL1 nucleotide exchange factor). PHENOTYPE: Mice homozygous for a gene trapped allele or spontaneous mutation exhibit ataxia and Purkinje cell degeneration. [provided by MGI curators] |