MRPL20

Chr 1

mitochondrial ribosomal protein L20

Also known as: L20mt, MRP-L20, bL20m

NCBI Gene: 55052 ENSG00000242485 UniProt: Q9BYC9

The protein is a component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins essential for mitochondrial function. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems, typically presenting in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq

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 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.82

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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