MRPL22
Description
The MRPL22 (mitochondrial ribosomal protein L22) is a protein-coding gene located on chromosome 5.
The MRPL22 gene in humans encodes a protein known as 39S ribosomal protein L22, mitochondrial. This protein is involved in protein synthesis within the mitochondrion. Mitochondria have their own ribosomes, called mitoribosomes, which consist of a small 28S subunit and a large 39S subunit. The MRPL22 protein belongs to the L22 ribosomal protein family and is a component of the 39S subunit. Interestingly, there is a pseudogene corresponding to the MRPL22 gene located on chromosome 4q. Two different isoforms of the MRPL22 protein have been identified, encoded by different transcript variants of the gene.
MRPL22 is also known as HSPC158, L22mt, MRP-L22, MRP-L25, RPML25, uL22m.
Associated Diseases
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- cone-rod synaptic disorder syndrome, congenital nonprogressive
- substance abuse