Primary Identifier | MGI:1891704 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 56422 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, no-go decay and rescue of stalled ribosome. Predicted to be part of Dom34-Hbs1 complex. Predicted to be active in cytosolic ribosome. Is expressed in several structures, including central nervous system; limb muscle; liver; lung; and spleen. Human ortholog(s) of this gene implicated in beta thalassemia. Orthologous to human HBS1L (HBS1 like translational GTPase). PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit decreased body weight, facial dysmorphism with depressed nasal and zygomatic bones, dental asymmetry, malocclusion, vertebral defects, male infertility, and abnormal retinal pigmentation. Mice homozygous for a null allele die prior to E6.5. [provided by MGI curators] |