MINDY3

Chr 10

MINDY lysine 48 deubiquitinase 3

Also known as: C10orf97, CARP, DERP5, FAM188A, MST126, MSTP126, my042

NCBI Gene: 80013 ENSG00000148481 UniProt: Q9H8M7

The protein functions as a hydrolase that removes Lys-48-linked ubiquitin from proteins and contains a caspase-associated recruitment domain that may function in apoptosis. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows autosomal recessive inheritance and is moderately constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Clinical highlights

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

0.54

LOEUF

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Mechanism

Some data sources returned errors (1)

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