MRPS14

Chr 1

mitochondrial ribosomal protein S14

Also known as: COXPD38, DJ262D12.2, HSMRPS14, MRP-S14, S14mt, uS14m

NCBI Gene: 63931 ENSG00000120333 UniProt: O60783

This protein is a component of the mitochondrial ribosome's 28S subunit that is essential for mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency 38, which follows an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function mutations (pLI = 0.0002), indicating that biallelic mutations are likely required for disease manifestation.

ResearchSummary from RefSeq, OMIM

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 S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

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