YME1L1

Chr 10AR

YME1 like 1 ATPase

Also known as: FTSH, MEG4, OPA11, PAMP, YME1L

NCBI Gene: 10730 ENSG00000136758 UniProt: Q96TA2 OMIM: 607472

YME1L1 encodes an ATP-dependent metalloprotease that degrades mitochondrial proteins and regulates mitochondrial morphology by cleaving OPA1, which is essential for maintaining normal mitochondrial structure and respiratory function. Mutations cause optic atrophy 11, inherited in an autosomal recessive pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.448), indicating that complete loss of function is likely pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Optic atrophy 11MIM #617302

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

Mechanism· predicted