MRPS12

Description

The MRPS12 (mitochondrial ribosomal protein S12) is a protein-coding gene located on chromosome 19.

The MRPS12 gene encodes a protein known as 28S ribosomal protein S12, mitochondrial. This protein is a crucial component of the mitochondrial ribosome, which is responsible for protein synthesis within mitochondria. Mitochondrial ribosomes are distinct from the ribosomes found in the cytoplasm, with a different composition of proteins and RNA. The MRPS12 protein is part of the small subunit of the mitochondrial ribosome, and it plays a role in ensuring the accuracy of protein synthesis. It also influences the sensitivity of mitochondria to certain antibiotics. Interestingly, the MRPS12 gene is located near the gene for mitochondrial seryl-tRNA synthetase, and both genes are potential candidates for the autosomal dominant deafness gene (DFNA4). Different versions of the MRPS12 gene exist, with variations in the 5' UTR, but all variants produce the same protein.

MRPS12 is a key component of the mitochondrial small ribosomal subunit (mt-SSU). It plays a critical role in decoding genetic information and ensuring the accuracy of protein synthesis within mitochondria. MRPS12 also influences the sensitivity of mitochondria to aminoglycoside antibiotics, which are used to treat bacterial infections. The gene encoding MRPS12 is located near the gene for mitochondrial seryl-tRNA synthetase, and both genes have been implicated in autosomal dominant deafness.

MRPS12 is also known as MPR-S12, MT-RPS12, RPMS12, RPS12, RPSM12, uS12m.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing