TRPM1

TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1) is a protein that in humans is encoded by the TRPM1 gene. It is a member of the transient receptor potential channel family, which is a group of ion channels located mostly on the plasma membrane of numerous animal cell types.

Function

TRPM1 is a calcium-permeable ion channel that is activated by light and is involved in the regulation of melanin production, a process known as melanogenesis. It is primarily expressed in melanocytes, the cells responsible for skin and hair pigmentation.

Clinical significance

Mutations in the TRPM1 gene are associated with congenital stationary night blindness and melanoma, a type of skin cancer.

Congenital Stationary Night Blindness

Congenital stationary night blindness (CSNB) is a rare inherited eye disorder characterized by an inability to see clearly in low light. Mutations in the TRPM1 gene have been identified as a cause of autosomal recessive CSNB.

Melanoma

TRPM1 is also implicated in melanoma. It is often silenced in metastatic melanoma cells, and its loss is associated with melanoma progression.

See also

• Transient receptor potential channel
• Melanogenesis
• Melanoma
• Congenital stationary night blindness

References

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