rs375239981
This variant is located in the MIEF2 gene.
▶ClinVar annotation
About MIEF2
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]
View all MIEF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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