MRPL48

mitochondrial ribosomal protein L48

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. [provided by RefSeq, Jan 2016]

Known Variants10 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19001189211:73,508,656C/Aregulatory region variant
rs172383211:73,511,893G/Aintron variant
rs194749740811:73,519,366C/Tuncertain significance
rs36777080611:73,536,776C/Tuncertain significance
rs76378116611:73,536,777G/Auncertain significance
rs78013016611:73,536,804G/Auncertain significance
rs56167817911:73,540,416T/C
rs92047551511:73,555,964G/Auncertain significance
rs37533275611:73,574,223G/Auncertain significance
rs20222444511:73,574,286G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.