MRPL13

Chr 8

mitochondrial ribosomal protein L13

Also known as: L13, L13A, L13mt, RPL13, RPML13, uL13m

NCBI Gene: 28998 ENSG00000172172 UniProt: Q9BYD1

The protein is a component of the large 39S subunit of mitochondrial ribosomes, which are responsible for protein synthesis within mitochondria. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems, typically presenting in infancy or early childhood with developmental delay, hypotonia, and metabolic dysfunction. This gene shows very low constraint against loss-of-function variants (pLI near 0), which is consistent with recessive inheritance patterns.

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.52

LOEUF

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Mechanism

Some data sources returned errors (1)