GFM1 gene

G elongation factor mitochondrial 1

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. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]

From UniProt:

Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 1

From UniProt:

Combined oxidative phosphorylation deficiency 1 (COXPD1): A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. [MIM:609060]

Cytogenetic Location: 3q25.32, which is the long (q) arm of chromosome 3 at position 25.32

Molecular Location: base pairs 158,644,497 to 158,692,572 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q25.32, which is the long (q) arm of chromosome 3 at position 25.32
  • COXPD1
  • EFG
  • EFG1
  • EFGM
  • EGF1
  • GFM
  • hEFG1