HELB

Gene

1 paper4 findings

  • 1 lab
  • Animals1

Effects

3

Follicle depletion

upin mice1

1 study
  1. HELB increases follicle depletion in mice.

    “aged Helb+/D112Y females showed decreased ovarian weight and accelerated follicle depletion.”

    Animalsheterozygous missense variant Helb+/D112Yovaryfemales

    Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause

    JCI insight10 Nov 2025

Ovarian weight

downin mice1

1 study
  1. HELB decreases ovarian weight in mice.

    “Consistently, aged Helb+/D112Y females showed decreased ovarian weight and accelerated follicle depletion.”

    Animalsheterozygous missense variant Helb+/D112Yovaryfemales

    Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause

    JCI insight10 Nov 2025

Reproductive lifespan

downin mice1

1 study
  1. HELB impairs reproductive lifespan in mice.

    “The Helb-mutated female mice exhibited reduced litter sizes and prolonged interlitter intervals compared with wild-type mice after reaching 10 months of age, leading to a shortened reproductive lifespan.”

    Animalsheterozygous missense variant Helb+/D112Yfemales

    Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause

    JCI insight10 Nov 2025

Associations

1

Premature ovarian insufficiency

upin humans1

1 study
  1. HELB is associated with premature ovarian insufficiency in humans.

    “identified a rare heterozygous missense variant in DNA helicase B (HELB) (c.349G>T, p.Asp117Tyr) in a Chinese family with POI and early menopause.”

    Humansheterozygous missense variant c.349G>T, p.Asp117Tyrfemales

    Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause

    JCI insight10 Nov 2025

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