mitochondrial ribosomal protein L44 , COXPD16 , L44MT , MRP-L44
MRPL44 (Mitochondrial Ribosomal Protein L44) is a Protein Coding gene. MRPL44 encodes a protein in the large subunit of the mitochondrial ribosome and is suggested to locate near the tunnel exit of the yeast mitochondrial ribosome. It belongs to the mitochondrion-specific ribosomal protein mL44 subfamily. In the patient fibroblasts, decreased MRPL44 affected assembly of the large ribosomal subunit and stability of 16S rRNA leading to complex IV deficiency. It may have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome. MRPL44 is widely expressed in the bone marrow, lymph node, and other tissues. Diseases associated with MRPL44 include Combined Oxidative Phosphorylation Deficiency 16 and Combined Oxidative Phosphorylation Deficiency 1.
TMPY-04073
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