MRPL12

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 which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq]

mitochondrial ribosomal protein L12

As a component of the mitochondrial large ribosomal subunit, it plays a role in mitochondrial translation (PubMed:23603806).

Associates with mitochondrial RNA polymerase to activate transcription.

Mitochondrial transcription Source: HGNC-UCL
Mitochondrial translation Source: ComplexPortal
Positive regulation of transcription, DNA-templated Source: HGNC-UCL

Mitochondrion

Combined oxidative phosphorylation deficiency 45 (COXPD45):
An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues.