MRPS7 gene

mitochondrial ribosomal protein S7

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. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 34

From UniProt:

Combined oxidative phosphorylation deficiency 34 (COXPD34): An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. [MIM:617872]

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1

Molecular Location: base pairs 75,261,879 to 75,266,376 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1
  • bMRP27a
  • COXPD34
  • MRP-S
  • MRP-S7
  • RP-S7
  • RPMS7
  • S7mt