Transmembrane protein 94 (TMEM94)

Transmembrane protein 94 (TMEM94) is an endoplasmic reticulum-localized multi-pass transmembrane protein that functions as a P-type magnesium transporter, facilitating the uptake of Mg²⁺ from the cytosol into the endoplasmic reticulum and regulating intracellular magnesium homeostasis. TMEM94 possesses a P-type ATPase domain with a unique GMN motif and structural features comparable to both prokaryotic and eukaryotic magnesium ATPases. It is crucial for normal cardiac physiology, as dysfunction can lead to impaired Ca²⁺ cycling in cardiomyocytes. Clinically, biallelic pathogenic variants in TMEM94 result in syndromic intellectual developmental disorders with accompanying congenital cardiac anomalies and distinct craniofacial features.

Other names

ERMAKIAA01952310067B10RikIDDCDFmKIAA0195transmembrane protein 94