DNM1L

Chr 12

dynamin 1L

Also known as: DLP1, DRP1, DVLP, DYMPLE, EMPF, EMPF1, HDYNIV, OPA5

NCBI Gene: 10059 ENSG00000087470 UniProt: O00429

The protein mediates mitochondrial and peroxisomal division through its GTPase activity and regulates developmentally programmed cell death. Mutations cause lethal encephalopathy due to defective mitochondrial and peroxisomal fission and optic atrophy 5, inherited in both autosomal dominant and autosomal recessive patterns. The pathogenic mechanism involves dominant-negative effects that disrupt normal organellar fission processes.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEncephalopathy due to defective mitochondrial and peroxisomal fission 1

UniProtOptic atrophy 5

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting3 gene-disease associations curated in total

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

Mechanism· G2P

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GeneReview available — DNM1L

Authoritative clinical overview · Recommended first read