MRPL40

Chr 22

mitochondrial ribosomal protein L40

Also known as: L40mt, MRP-L22, MRP-L40, NLVCF, URIM, mL40

NCBI Gene: 64976 ENSG00000185608 UniProt: Q9NQ50

The protein is a component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins within mitochondria. Deletions involving this gene may contribute to velo-cardio-facial syndrome and DiGeorge syndrome, which are autosomal dominant disorders affecting cardiac, facial, and immune system development. The gene shows tolerance to loss-of-function variants (pLI 0.05, LOEUF 0.79), suggesting that isolated mutations in this gene alone may not be sufficient to cause disease.

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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [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)

—

P/LP submissions

—

P/LP missense

0.79

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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