MIEF2 Chromosome 17

Mitochondrial elongation factor 2

1 variant 1 Health Risk

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What This Gene Does

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]

Associated Conditions (1)

Combined oxidative phosphorylation deficiency 49

Key Variants

RS1978513963

Pathogenic

Combined oxidative phosphorylation deficiency 49, Combined oxidative phosphorylation deficiency 49

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1978513963	Health Risk	Pathogenic	Combined oxidative phosphorylation deficiency 49, Combined oxidative phosphorylation deficiency 49