GFM2 gene

G elongation factor mitochondrial 2

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

From NCBI Gene:

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

From UniProt:

Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39

From UniProt:

Combined oxidative phosphorylation deficiency 39 (COXPD39): An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. [MIM:618397]

Cytogenetic Location: 5q13.3, which is the long (q) arm of chromosome 5 at position 13.3

Molecular Location: base pairs 74,721,206 to 74,767,371 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q13.3, which is the long (q) arm of chromosome 5 at position 13.3
  • EF-G2mt
  • EFG2
  • hEFG2
  • mEF-G 2
  • MRRF2
  • MST027
  • MSTP027
  • RRF
  • RRF2
  • RRF2mt