MRPS16

Chr 10AR

mitochondrial ribosomal protein S16

Also known as: CGI-132, COXPD2, MRP-S16, RPMS16, S16mt, bS16m

NCBI Gene: 51021 ENSG00000182180 UniProt: Q9Y3D3 OMIM: 610498

The protein is a component of the mitochondrial ribosome's small 28S subunit and is essential for mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency, which presents with multisystem dysfunction affecting tissues with high energy demands through impaired mitochondrial respiratory chain function. The condition follows autosomal recessive inheritance and results from loss of protein function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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 S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]

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