In addition to the retina, TRPM1 is also expressed in melanocytes of the skin. In melanoma, the expression of TRPM1 in tumor cells is inversely correlated with the aggressiveness of the melanoma. However, subsequent work has shown that it is not the TRPM1 protein itself, but a microRNA localized in an intron of the TRPM1 gene that is responsible for tumor suppression. Loss of TRPM1 mRNA expression thus appears to be a critical factor in the progression of melanoma to a more malignant, metastatic phenotype (Erickson LA et al. 2009; Brożyna AA et al. 2017).
Both TRPM1 and microRNA expression are regulated by the so-called microphthalmia-associated transcription factor (MIT)-related factor.
Mutations in TRPM1 are associated with congenital stationary night blindness (CSNB) in humans, in which rod function is absent and patients suffer from night blindness in early childhood (Irie S et al. 2014).
In animals, mutations are associated with coat spotting in Appaloosa horses, which may also suffer from Congenital Stationary Night Blindness (CSNB).