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 7.1.0) 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 act upstream of or within regulation of translation and translational elongation. Predicted to be located in cytoplasm. 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] |