TMEM63A
Function
Mechanosensitive cation channel with low conductance and high activation threshold. Important for the baby's first breath and respiration throughout life. Upon lung inflation conducts cation currents in alveolar type 1 and 2 cells triggering lamellar body exocytosis and surfactant secretion into airspace (PubMed:30382938, PubMed:31587869, PubMed:37543036, PubMed:38127458). Osmosensitive cation channel preferentially activated by hypotonic stress (PubMed:37543036).
Involvement in disease
Leukodystrophy, hypomyelinating, 19, transient infantile
HLD19
An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-Glycosylated.
Sequence Similarities
Belongs to the CSC1 (TC 1.A.17) family.
Cellular localization
- Lysosome membrane
- Multi-pass membrane protein
- Early endosome membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
Alternative names
KIAA0489, KIAA0792, TMEM63A, CSC1-like protein 1, Transmembrane protein 63A