Primary Identifier | MGI:1930188 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 79044 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be a structural constituent of ribosome. Involved in mitochondrial translation. Located in mitochondrion. Is expressed in several structures, including early conceptus; genitourinary system; heart; liver; and thymus primordium. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 32. Orthologous to human MRPS34 (mitochondrial ribosomal protein S34). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit mitochondrial malfunction with cardiac hypertrophy and liver steatosis. [provided by MGI curators] |