Primary Identifier | MGI:102854 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 100503670 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of ribosome. Predicted to be involved in several processes, including protein stabilization; regulation of protein metabolic process; and ribosome biogenesis. Located in cytoplasm. Part of cytosolic large ribosomal subunit. Is active in synapse. Is expressed in several structures, including central nervous system; gonad; intestine; sensory organ; and spleen. Used to study Diamond-Blackfan anemia 6. Human ortholog(s) of this gene implicated in Diamond-Blackfan anemia 6; T-cell acute lymphoblastic leukemia; and glioblastoma. Orthologous to human RPL5 (ribosomal protein L5). PHENOTYPE: Mice homozygous die by E11 to E12. Mice heterozygous for an ENU-induced allele exhibit a loop tail, incomplete prenatal lethality, ventricular septal defect, and macrocytic anemia at birth. [provided by MGI curators] |