| Primary Identifier | MGI:1914672 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 67422 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity. Predicted to contribute to dehydrodolichyl diphosphate synthase activity and polyprenyltransferase activity. Predicted to be involved in dolichyl diphosphate biosynthetic process and polyprenol biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of dehydrodolichyl diphosphate synthase complex. Predicted to be active in endoplasmic reticulum. Used to study retinitis pigmentosa 59. Human ortholog(s) of this gene implicated in developmental delay and seizures with or without movement abnormalities and retinitis pigmentosa 59. Orthologous to human DHDDS (dehydrodolichyl diphosphate synthase subunit). PHENOTYPE: Homozygosity for a human retinitis pigmentosa (RP59)-associated point mutation induces retinal gliosis without morphological anomalies. Mice with conditional ablation in the retinal pigment epithelium display retinal atrophy and defects in rod and cone responses. [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
