MRPL18

Description

The MRPL18 (mitochondrial ribosomal protein L18) is a protein-coding gene located on chromosome 6.

MRPL18 is a protein encoded by the MRPL18 gene in humans. It is one of the many proteins that make up the large subunit (39S) of the mitochondrial ribosome (mitoribosome), which is responsible for protein synthesis within the mitochondria. Mammalian mitoribosomes differ from bacterial ribosomes in several ways, including their protein-to-RNA ratio and the absence of a 5S rRNA. The gene encoding MRPL18 contains three polymorphic sites, one of which is three nucleotides long, leading to an extra amino acid near the N-terminus of the protein.

MRPL18, along with thiosulfate sulfurtransferase (TST), helps import 5S rRNA from the cytoplasm into the mitochondria. Before import, MRPL18 acts as an RNA chaperone, folding the 5S rRNA into a proper shape that TST recognizes. Both the cytoplasmic and mitochondrial forms of MRPL18 can bind to a specific region (helix IV-loop D) in the gamma domain of the 5S rRNA.

MRPL18 is also known as HSPC071, L18mt, MRP-L18, uL18m.

Associated Diseases

• early-onset non-syndromic cataract
• isolated ectopia lentis
• aniridia
• cataract
• hereditary hyperferritinemia with congenital cataracts
• cataract 38
• cataract 13 with adult I phenotype
• cataract 50 with or without glaucoma
• granular corneal dystrophy type I
• cataract 12 multiple types
• cataract 5 multiple types
• familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome