TMCO1 : transmembrane and coiled-coil domains 1
Description
The TMCO1 (transmembrane and coiled-coil domains 1) is a protein-coding gene located on chromosome 1.
The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow. The protein is found in the membrane of a cell structure called the endoplasmic reticulum, which acts as a storage center for calcium ions. When there is too much calcium in the endoplasmic reticulum, four TMCO1 proteins come together to form a channel that releases the excess calcium into the surrounding fluid inside the cell (cytoplasm).The TMCO1 protein helps regulate the balance of calcium ions inside the endoplasmic reticulum. Calcium acts as a signal for many cellular functions including cell growth and division and gene activity. The proper balance of these ions in cells and in cell compartments is important for the development and function of various tissues and organs.
Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum (ER) overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store. Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions. Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane.
TMCO1 is also known as CFSMR1, HP10122, PCIA3, PNAS-136, TMCC4.
Associated Diseases
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
- Cerebrofaciothoracic dysplasia
- Cerebro-facio-thoracic dysplasia
