TMEM150C

Chr 4

transmembrane protein 150C

Also known as: DRAM4, TTN3

NCBI Gene: 441027 ENSG00000249242 UniProt: B9EJG8

This gene encodes a transmembrane protein that forms a mechanosensitive ion channel activated by mechanical stimuli, functioning as a nonselective cationic channel with high calcium permeability in dorsal root ganglion neurons and contributing to proprioception, touch, and pain sensation. Mutations cause autosomal recessive intellectual disability with neurological and behavioral abnormalities. The gene shows low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.87

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)