Gene: MRPS6

Alternate names for this Gene: C21orf101|MRP-S6|RPMS6|S6mt

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 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: mitochondrial ribosomal protein S6

Type of Gene: protein-coding

Gene: SLC5A3

Alternate names for this Gene: BCW2|SMIT|SMIT1|SMIT2

Gene Summary:

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: solute carrier family 5 member 3

Type of Gene: protein-coding

rs147050753 in MRPS6;SLC5A3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.