MRPL41

Chr 9

mitochondrial ribosomal protein L41

Also known as: BMRP, MRP-L27, MRPL27, PIG3, RPML27, mL41

NCBI Gene: 64975 ENSG00000182154 UniProt: Q8IXM3

This protein is a component of the mitochondrial ribosome large subunit and is involved in mitochondrial protein synthesis, while also playing roles in apoptosis and cell cycle regulation by enhancing p53 stability and promoting cell cycle arrest. Mutations in MRPL41 cause autosomal recessive mitochondrial disease with features including developmental delay, seizures, and metabolic dysfunction. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in mitochondrial function.

ResearchSummary from RefSeq, UniProt

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 that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.17

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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