TMEM147
Description
The TMEM147 (transmembrane protein 147) is a protein-coding gene located on chromosome 19.
TMEM147 is a component of the multi-pass translocon (MPT) complex, which mediates the insertion of multi-pass membrane proteins into cell membranes. The MPT complex takes over from the SEC61 complex, occluding its lateral gate to allow for the insertion of subsequent transmembrane regions. TMEM147 also acts as a negative regulator of CHRM3 function, likely by interfering with its trafficking to the cell membrane. This regulation leads to the suppression of CHRM3-mediated calcium mobilization and activation of RPS6KA1/p90RSK activity. TMEM147 also regulates the localization of LBR to the nucleus inner membrane.
TMEM147 is also known as NEDFLPH, NIFIE14.
Associated Diseases
- Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
