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NCSTN gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NCSTN gene

The NCSTN gene provides instructions for making nicastrin, a protein critical for the assembly and stability of the gamma-secretase complex.

Normal Function

The NCSTN gene produces a protein called nicastrin, which is a subunit of the gamma-secretase complex. This complex is located in the cell membrane and is responsible for cleaving various transmembrane proteins. This process is vital for chemical signaling pathways, including Notch signaling, which is essential for the growth and maturation of skin and hair follicle cells, as well as normal immune system function.

Health Conditions Related to Genetic Changes

Hidradenitis suppurativa

Variants in the NCSTN gene have been linked to hidradenitis suppurativa, a chronic skin condition characterized by painful, recurrent boil-like nodules under the skin. These genetic variants reduce the amount of functional nicastrin available, leading to a shortage of the gamma-secretase complex. This impairment of Notch signaling is believed to promote the development of nodules in hair follicles and trigger skin inflammation.

Other Names for This Gene

  • anterior pharynx-defective 2
  • APH2
  • ATAG1874
  • KIAA0253
  • NICA_HUMAN
  • nicastrin precursor
  • RP11-517F10.1

Frequently Asked Questions

Therapeutic strategies include topical and systemic antibiotics (e.g., clindamycin, doxycycline), anti‑inflammatory agents (e.g., TNF‑α inhibitors like adalimumab), and hormonal therapy (e.g., oral contraceptives or anti‑androgens) to reduce follicular inflammation. In severe or refractory cases, surgical excision or laser therapy may be necessary. Emerging treatments targeting Notch signaling are under investigation but not yet standard care.
NCSTN encodes nicastrin, a key subunit of the gamma‑secretase complex that cleaves transmembrane proteins involved in Notch signaling. Reduced nicastrin levels impair Notch signaling, which disrupts normal skin and hair follicle development. This dysregulation promotes follicular occlusion, inflammation, and the formation of the characteristic nodules and abscesses seen in HS.
Yes. Identifying an NCSTN mutation can confirm a hereditary form of HS, inform prognosis, and guide family counseling. While the presence of a mutation does not change first‑line therapy, it may prompt earlier intervention and closer monitoring for complications such as scarring or secondary infections. It also allows at‑risk relatives to consider genetic counseling and potential preventive measures.
Hidradenitis suppurativa (HS) associated with NCSTN mutations often presents as painful, inflamed nodules or abscesses in areas rich in apocrine glands—such as the armpits, groin, buttocks, and under the breasts. These lesions may coalesce into sinus tracts and produce foul-smelling discharge. A family history of HS or other skin disorders can raise suspicion of a genetic component.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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