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

MITF gene

The MITF gene provides instructions for a transcription factor that regulates the development and function of pigment-producing cells and other specialized cell types.

Normal Function

The MITF gene provides instructions for a protein that acts as a transcription factor. This protein attaches to specific areas of DNA to control the activity of other genes. It is critical for the development and function of melanocytes, which produce the pigment melanin that gives color to hair, skin, and eyes. Melanocytes are also essential for hearing in the inner ear. Additionally, the MITF protein regulates:

  • Retinal pigment epithelial cells in the eye.
  • Osteoclasts (cells that break down bone).
  • Mast cells (cells involved in allergic reactions).

The protein functions as a dimer, created by the interaction of two MITF proteins via the helix-loop-helix and leucine-zipper motifs, while the basic motif allows it to bind to DNA.

Health Conditions Related to Genetic Changes

Melanoma

Pathogenic variants in the MITF gene are associated with melanoma, an aggressive skin cancer. Most of these variants are somatic (occurring during a person's lifetime), though some are inherited germline variants. These variants increase cell proliferation, either directly or by increasing the activity of other genes involved in cell growth.

Tietz syndrome

Tietz syndrome is characterized by congenital hearing loss and hypopigmentation (light skin and hair). It is caused by pathogenic variants in the MITF gene that affect the basic motif, preventing the MITF dimer from binding to DNA. This is known as a dominant-negative effect, which impairs the development of melanocytes in the inner ear and skin.

Waardenburg syndrome

Waardenburg syndrome type II is caused by MITF variants that disrupt the formation of dimers. This leads to a shortage of melanocytes, resulting in hearing loss and patchy loss of pigmentation in the skin, hair, and eyes.

COMMAD syndrome

COMMAD syndrome is a rare condition caused by variants in both copies of the MITF gene. It is an acronym for its major features:

  • Coloboma (missing eye tissue)
  • Osteopetrosis (dense, brittle bones)
  • Microphthalmia (unusually small eyes)
  • Macrocephaly (unusually large head)
  • Albinism (light coloring)
  • Deafness (sensorineural hearing loss)

Other Names for This Gene

  • melanogenesis associated transcription factor
  • microphthalmia-associated transcription factor
  • WS2
  • WS2A

Frequently Asked Questions

targeted NGS panel that includes the MITF coding region (and known pathogenic hotspots) is the standard test. Results are reported as pathogenic, likely pathogenic, variant of uncertain significance (VUS), or benign. A pathogenic or likely pathogenic result confirms the familial variant; relatives who test positive should follow the same surveillance protocols (skin exams, audiology, etc.). A VUS requires expert interpretation and may not change management until further evidence emerges.
Early audiologic assessment is crucial; most children benefit from hearing aids placed before 6 months of age to support speech development. If hearing loss is severe or progressive, cochlear implantation may be considered after thorough evaluation, typically between 12–24 months. Ongoing speech‑language therapy and regular audiology follow‑up (every 3–6 months) are essential.
Germline MITF pathogenic variants (especially p.E318K) raise melanoma risk roughly 2–3‑fold compared to the general population. Dermatology visits for full‑body skin exams every 6–12 months are recommended, with immediate evaluation of any new or changing pigmented lesions. Annual dermoscopy and, if available, total‑body photography can improve early detection.
Hypopigmented skin is usually benign, but sun protection is vital because reduced melanin increases UV‑induced damage. Use broad‑spectrum sunscreen (SPF 30 or higher) daily, wear protective clothing, and avoid peak sun hours. Regular dermatologic exams help monitor for atypical lesions, especially if there is a concurrent melanoma risk.
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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