MRPS22 gene

mitochondrial ribosomal protein S22

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 does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 5

From UniProt:

Ovarian dysgenesis 7 (ODG7): A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition. [MIM:618117]

Combined oxidative phosphorylation deficiency 5 (COXPD5): A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. [MIM:611719]

Cytogenetic Location: 3q23, which is the long (q) arm of chromosome 3 at position 23

Molecular Location: base pairs 139,343,994 to 139,357,140 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 3q23, which is the long (q) arm of chromosome 3 at position 23
  • C3orf5
  • COXPD5
  • GIBT
  • GK002
  • MRP-S22
  • ODG7
  • RPMS22