Target intelligence / Profile preview

Osmosensitive cation channel TMEM63C (TMEM63C)

Target
TMEM63C
Molecular classification
Ion channel, Mechanosensitive ion channel
01

Overview

TMEM63C is a mechanosensitive, osmosensitive calcium-permeable cation channel that is preferentially activated by hypotonic stress[1][6]. It belongs to the OSCA/TMEM63 family, structurally characterized by 11 transmembrane helices[1]. TMEM63C primarily exists as a monomer in animal cells and is enriched at mitochondria-endoplasmic reticulum contact sites, where it regulates metabolite flux and organelle morphology in response to osmotic changes[3][6]. TMEM63C plays a role in various physiological processes, including calcium influx, neuronal mitochondrial function, and maintaining the functional integrity of the kidney filtration barrier. Pathogenic mutations are associated with hereditary spastic paraplegia type 87 and may have implications in kidney glomerular diseases like focal segmental glomerulosclerosis[3]. No interacting drugs or mechanisms of action for pharmacological targeting have been reported as of the latest research. Its main biological role is in cellular adaptation to changes in osmotic pressure, making it important for cell-volume regulation and mechanosensation[1][6][3].

Other names
Transmembrane protein 63CC14orf171CSC1hTMEM63ChsCSC1Calcium permeable stress-gated cation channel 1Calcium-permeable stress-gated cation channel 1 homolog (Arabidopsis)SPG87DKFZp434P0111
02

Biological functions

Osmosensation (sensing osmotic changes)Calcium-activated cation channel activityMonoatomic cation transportRegulation of mitochondrial function and motility (in neurons)Maintaining integrity of kidney glomerular filtration barrier
03

Disease associations

Neurodegenerative disease (e.g., hereditary spastic paraplegia 87)Kidney disease (e.g., focal segmental glomerulosclerosis)
04

Biomarkers

Biomarker of focal segmental glomerulosclerosis[3]

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