MRPS14 gene

mitochondrial ribosomal protein S14

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 S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

From NCBI Gene:

  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38

From UniProt:

Combined oxidative phosphorylation deficiency 38 (COXPD38): An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and mental retardation. [MIM:618378]

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

Molecular Location: base pairs 175,012,958 to 175,023,455 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q25.1, which is the long (q) arm of chromosome 1 at position 25.1
  • COXPD38
  • DJ262D12.2
  • HSMRPS14
  • MRP-S14
  • S14mt