| Primary Identifier | MGI:892979 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 12662 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme-substrate adaptor activity and small GTPase binding activity. Acts upstream of or within blood vessel development. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in urethra. Used to study choroideremia. Human ortholog(s) of this gene implicated in choroideremia. Orthologous to human CHM (CHM Rab escort protein). PHENOTYPE: For one disruption of this gene, heterozygous female and hemizygous male null mice display embryonic lethality with abnormal extraembryonic tissue development. For other disruptions however, heterozygous mice do survive and display depigmentation and degeneration of the retina. [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
