MRPL51

Chr 12

mitochondrial ribosomal protein L51

Also known as: CDA09, HSPC241, MRP64, bMRP64, mL51

NCBI Gene: 51258 ENSG00000111639 UniProt: Q4U2R6 OMIM: 611855

The protein is a component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins within mitochondria. Mutations cause Combined Oxidative Phosphorylation Deficiency 51, a severe mitochondrial disorder with autosomal recessive inheritance that typically presents in infancy with developmental delay, seizures, and lactic acidosis. The gene shows low constraint against loss-of-function variants (pLI 0.03), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

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. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.26

LOEUF

Multiple*

Mechanism· predicted