| Primary Identifier | MGI:2151233 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 116905 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 2-(3-amino-3-carboxypropyl)histidine synthase activity. Involved in protein histidyl modification to diphthamide. Acts upstream of or within fibroblast proliferation. Part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; liver; and lung. Used to study Miller-Dieker lissencephaly syndrome and diphthamide deficiency syndrome 1. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 1. Orthologous to human DPH1 (diphthamide biosynthesis 1). PHENOTYPE: Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. Compound heterozygosity for the p.Q41* and p.E237Q mutations is prenatal lethal with smaller embryos with smaller mandibles and unfused palatal shelves. [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
