MLLT10

Chr 10

MLLT10 histone lysine methyltransferase DOT1L cofactor

Also known as: AF10

NCBI Gene: 8028 ENSG00000078403 UniProt: P55197

This protein functions as a transcription factor that regulates gene expression by binding to histones and DNA, and controls histone methylation through DOT1L interactions. Mutations cause acute myeloid leukemia, typically through somatic chromosomal rearrangements that create fusion proteins. The gene is highly constrained against loss-of-function variants in the general population, and inheritance follows an autosomal dominant pattern when germline mutations are involved.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

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

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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