MRPL3 Antibody – Rabbit Polyclonal

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 that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]

MRPL3: Defects in MRPL3 are the cause of combined oxidative phosphorylation deficiency type 9 (COXPD9). A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. Belongs to the ribosomal protein L3P family.

Protein type: RNA-binding; Ribosomal; Translation; Mitochondrial

Chromosomal Location of Human Ortholog: 3q21-q23

Cellular Component: mitochondrial inner membrane; mitochondrial large ribosomal subunit

Molecular Function: RNA binding; structural constituent of ribosome

Biological Process: mitochondrial translation; organelle organization and biogenesis; translation

Disease: Combined Oxidative Phosphorylation Deficiency 9