| Primary Identifier | MGI:1916066 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 68816 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable cyclosporin A binding activity; disordered domain specific binding activity; and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in embryonic brain development and mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in nucleus. Predicted to be part of U2-type catalytic step 2 spliceosome. Is expressed in several structures, including alimentary system; central nervous system; respiratory system; sensory organ; and urinary system. Used to study microcephaly and pontocerebellar hypoplasia type 14. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 14. Orthologous to human PPIL1 (peptidylprolyl isomerase like 1). PHENOTYPE: Homozygous knockout is early embryonic lethal. Certain point mutations cause microcephaly, owing to reduced cerebral size, and are perinatal lethal. [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
