Gene: MRPL48

Alternate names for this Gene: CGI-118|HSPC290|L48MT|MRP-L48

Gene Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.4

Description of this Gene: mitochondrial ribosomal protein L48

Type of Gene: protein-coding

rs113485090 in MRPL48 gene and Major Depressive Disorder PMID 29317602 2018 Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.