MRPS2 gene

mitochondrial ribosomal protein S2

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 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

From UniProt:

Required for mitoribosome formation and stability, and mitochondrial translation.

From NCBI Gene:

  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36

From UniProt:

Combined oxidative phosphorylation deficiency 36 (COXPD36): An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. [MIM:617950]

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3

Molecular Location: base pairs 135,499,989 to 135,504,673 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3
  • CGI-91
  • COXPD36
  • MRP-S2
  • S2mt