| Primary Identifier | MGI:1914113 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 66863 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable small GTPase binding activity. Involved in negative regulation of Ras protein signal transduction and protein ubiquitination. Predicted to be located in recycling endosome membrane. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in Golgi apparatus. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; eye; and urinary system. Used to study Noonan syndrome 10. Human ortholog(s) of this gene implicated in several diseases, including Noonan syndrome (multiple); glioblastoma; hepatocellular carcinoma; neurilemmoma; and schwannomatosis (multiple). Orthologous to human LZTR1 (leucine zipper like post translational regulator 1). PHENOTYPE: Mice homozygous for a null allele die between E17.5 and birth. Heterozygotes exhibit Noonan syndrome phenotypes, including decreased weight and facial dysmorphia in males and eccentric hypertrophy, enlarged myocardial fibers and premature death in both sexes. [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
