TRPM3
TRPM3 is a member of the transient receptor potential (TRP) group of ion channels located in the cell membrane. It is encoded by the TRPM3 gene in humans.
Function
TRPM3 is a non-selective cation channel that is activated by pregnenolone sulfate, a neurosteroid. It is permeable to calcium, which allows it to play a role in calcium cell signaling. TRPM3 is expressed in a variety of tissues, including the brain, kidney, and cardiovascular system.
Clinical significance
Mutations in the TRPM3 gene have been associated with a rare form of intellectual disability known as autosomal recessive intellectual disability-16 (MRT16). This condition is characterized by severe cognitive impairment, muscle weakness, and seizures.
TRPM3 has also been implicated in the pathogenesis of pain and inflammation. It is activated by heat and inflammatory mediators, suggesting a role in nociception.
Research
Research into TRPM3 is ongoing, with studies investigating its role in various physiological and pathological processes. These include its potential involvement in cancer, diabetes, and neurodegenerative diseases.
See also
- Transient receptor potential channel
- Ion channel
- Neurosteroid
- Pregnenolone sulfate
- Calcium signaling
- Intellectual disability
- Nociception
References
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