MRPL3 gene

mitochondrial ribosomal protein L3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 9

From UniProt:

Combined oxidative phosphorylation deficiency 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. [MIM:614582]

Cytogenetic Location: 3q22.1, which is the long (q) arm of chromosome 3 at position 22.1

Molecular Location: base pairs 131,462,201 to 131,503,016 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q22.1, which is the long (q) arm of chromosome 3 at position 22.1
  • COXPD9
  • MRL3
  • RPML3