MIEF2 gene

mitochondrial elongation factor 2

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

From NCBI Gene:

This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

From UniProt:

Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity.

From UniProt:

A homozygous stop-gain variant in MIEF2 has been found in a patient with autosomal recessive myopathy. Clinical and biochemical features include progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated creatine kinase levels, and deficiency of multiple respiratory chain enzymes.

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 18,260,662 to 18,266,552 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2
  • MID49
  • SMCR7