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[edit | edit source]
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[edit | edit source]
Mutations in the TRPM1 gene are associated with congenital stationary night blindness and melanoma, a type of skin cancer.
Congenital Stationary Night Blindness[edit | edit source]
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[edit | edit source]
TRPM1 is also implicated in melanoma. It is often silenced in metastatic melanoma cells, and its loss is associated with melanoma progression.
See also[edit | edit source]
References[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD