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TRPM1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TRPM1 gene

The TRPM1 gene is essential for normal vision and pigmentation, acting as a cation channel in retinal cells and melanocytes.

Normal Function

The TRPM1 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 1 (TRPM1). This protein acts as a channel, transporting positively charged atoms (cations) into cells. The TRPM1 channel is found on the surface of two types of cells: pigment-producing cells called melanocytes and specialized bipolar cells in the retina.

In melanocytes, the TRPM1 channel is thought to play a role in the production of melanin, the substance that gives skin, hair, and eyes their color. In bipolar cells, TRPM1 channels are involved in the pathway that receives visual signals from rod cells, which are used to see in low light. This signaling is an essential step in the transmission of visual information from the eyes to the brain.

Health Conditions Related to Genetic Changes

Autosomal recessive congenital stationary night blindness

More than 35 mutations in the TRPM1 gene have been found to cause autosomal recessive congenital stationary night blindness. This condition is characterized by the inability to see in low light and other vision problems such as nearsightedness (myopia). Mutations in the TRPM1 gene are found in approximately half of all people with this condition.

Most TRPM1 gene mutations change single protein building blocks (amino acids) in the TRPM1 channel and either alter the structure of the channel or prevent the channel from reaching the bipolar cell membrane. As a result, the TRPM1 channel is nonfunctional and prevents bipolar cells from relaying visual signals. The brain does not receive the visual information sent by rods, leading to difficulty seeing in low light.

Other Names for This Gene

  • long transient receptor potential channel 1
  • LTRPC1
  • melastatin-1
  • MLSN1
  • transient receptor potential cation channel, subfamily M, member 1
  • transient receptor potential melastatin family
  • TRPM1_HUMAN

Frequently Asked Questions

pproximately 50% of individuals with autosomal recessive congenital stationary night blindness (CSNB) have pathogenic variants in the TRPM1 gene, making it one of the most common genetic causes of this disorder.
Currently, there is no therapy that reverses the underlying channel defect in bipolar cells. Management focuses on symptom mitigation, visual rehabilitation, and genetic counseling; research into gene‑replacement and pharmacologic modulation of the TRPM1 pathway is ongoing but not yet clinically available.
CSNB linked to TRPM1 follows an autosomal recessive inheritance pattern, meaning each child has a 25% chance of being affected if both parents carry a pathogenic variant. If only you are known to carry a TRPM1 mutation, carrier testing for the other parent and, if appropriate, prenatal or pre‑implantation genetic testing can be considered.
Using high‑intensity, wide‑spectrum lighting, avoiding glare, and employing night‑vision goggles or handheld LED lights can improve safety. Orientation and mobility training, along with contrast‑enhancing glasses, are also beneficial for daily activities in dim environments.
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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