| Primary Identifier | MGI:1859638 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 54633 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase binding activity; double-stranded DNA binding activity; and ribonucleoprotein complex binding activity. Involved in alternative mRNA splicing, via spliceosome and neuron projection development. Acts upstream of or within regulation of dendrite morphogenesis. Located in cytoplasmic stress granule; neuronal ribonucleoprotein granule; and nuclear speck. Is expressed in several structures, including adrenal cortex; alimentary system; brain; eye; and skin. Used to study Renpenning syndrome. Human ortholog(s) of this gene implicated in Renpenning syndrome. Orthologous to human PQBP1 (polyglutamine binding protein 1). PHENOTYPE: Hemi- or homozygosity for the p.W215* mutation affects cerebral cortical development, leading to a thin cerebral cortex and reduced body and brain weight. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
