MRPL40
Description
The MRPL40 (mitochondrial ribosomal protein L40) is a protein-coding gene located on chromosome 22.
The MRPL40 gene encodes 39S ribosomal protein L40, mitochondrial, a protein involved in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) are composed of a small 28S subunit and a large 39S subunit. These ribosomes differ from prokaryotic ribosomes in their protein-to-rRNA composition and the absence of a 5S rRNA. Deletions in the MRPL40 gene have been linked to velo-cardio-facial syndrome and DiGeorge syndrome.
MRPL40 is also known as L40mt, MRP-L22, MRP-L40, MRPL22, NLVCF, URIM, mL40.
