MRPL37

Chr 1

mitochondrial ribosomal protein L37

Also known as: L2mt, L37mt, MRP-L2, MRP-L37, MRPL2, RPML2, mL37

NCBI Gene: 51253 ENSG00000116221 UniProt: Q9BZE1 OMIM: 611843

This 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 with variable presentations that can include developmental delay, seizures, and multi-organ dysfunction. The gene shows minimal constraint against loss-of-function variants (very low pLI score), suggesting that complete loss of function may be tolerated in the heterozygous state.

OMIM 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]

OMIM ResearchGenerating clinical summary…

LOEUF 1.12

Clinical Summary— MRPL37

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →