Localized to the endoplasmic reticulum (ER) and mitochondria, TMCO1 protein is involved in Ca2+homeostasis. While the function of this protein is still not completely clear, research shows that TMCO1 protein is crucial in facilitating active Ca2+leak from the ER to reduce Ca2+load to resting ER concentrations through a novel Ca2+-load activated Ca2+ (CLAC) mechanism.
TMCO1 is ubiquitously expressed in both adult and fetal tissues, helping further understand its multisystem effect. Mutations in the TMCO1 gene result in TMCO1 Defect Syndrome that is inherited in an autosomal recessive manner.
Mutations in TMCO1 can be detected by molecular genetic testing of a patient’s DNA sample. Molecular genetic testing approaches can include targeted single-gene testing, a multigene panel, or comprehensive genomic testing (whole exome sequencing, whole genome sequencing).
TMCO1