SETD1A

Gene

2 papers4 findings

HGNCNCBI GeneTaxon

  • 2 independent labs in 2 countries
  • Funders: Maryland Stem Cell Research Fund and 5 more
  • Humans2

Effects

3

Cognitive function

downin humans1

1 study
  1. SETD1A impairs cognitive function in humans.

    “accompanied by allele dose-dependent cognitive deficits in adulthood.”

    Humanshomozygous carriers

    Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variant

    Research square13 Jul 2026Preprint

Cellular senescence

downin human cells1

1 study
  1. SETD1A inhibits cellular senescence in human cells.

    “SETD1A knockdown accelerated NPCs senescence and aggravated IDD”

    Cellsknockdownnucleus pulposus

    SETD1A Regulates Glycolysis and Senescence of Nucleus Pulposus Cells via H3K4me3-HELZ2/PPARα-HIF1α Axis to Drive Intervertebral Disc Degeneration

    Advanced science (Weinheim, Baden-Wurttemberg, Germany)31 Mar 2026

More on Cellular senescence

Intervertebral disc degeneration

downin humans1

1 study
  1. SETD1A prevents intervertebral disc degeneration in humans.

    “SETD1A knockdown accelerated NPCs senescence and aggravated IDD”

    Animalsknockdownnucleus pulposus

    SETD1A Regulates Glycolysis and Senescence of Nucleus Pulposus Cells via H3K4me3-HELZ2/PPARα-HIF1α Axis to Drive Intervertebral Disc Degeneration

    Advanced science (Weinheim, Baden-Wurttemberg, Germany)31 Mar 2026

More on Intervertebral disc degeneration

Associations

1

Bipolar disorder

upin humans1

1 study
  1. SETD1A raises the risk of bipolar disorder in humans (nearly two-fold).

    “Psychiatric and cognitive phenotyping revealed nearly two-fold increased risk for bipolar disorder, accompanied by allele dose-dependent cognitive deficits in adulthood.”

    Humanshomozygous carriers

    Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variant

    Research square13 Jul 2026Preprint

More on Bipolar disorder

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