TRPM1


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TRPM1

A gene on chromosome 15q13.3 that encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels, which is expressed in melanocytes and may play a role in melanin synthesis.
 
Molecular pathology
TRPM1 mutations are associated with autosomal recessive complete congenital stationary night blindness-1C. Melastatin levels are inversely correlated with melanoma aggressiveness and thus useful prognostic markers for melanoma metastasis.
References in periodicals archive ?
[62] reported that TRPM1 is correlated with congenital night blindness.
Sandmeyer et al., "Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)," Genetics, vol.
(383,494) Melastatin (TRPM1), which is lost in a subset of melanomas with poor prognosis, is controlled by MITF.
In molecular terms, the study strongly suggested that nyctalopin coordinates the assembly and precise delivery to the synapse of the macromolecular complex consisting of mGluR6, a neurotransmitter receptor protein, which directly communicates with rod photoreceptors and TRPM1, a protein channel that generates the response, making vision possible.
(18) The importance of MLSN-1 in melanoma progression is further evidenced by the fact that microphthalmia-associated transcription factor, an essential melanocyte transcription factor and a specific melanocytic marker, regulates the expression of MLSN-1, also known as TRPM1, in a series of melanoma cells lines.