The Enigma of MCTP2: Unraveling Its Role in Health and Disease
The MCTP2 gene—officially known as Multiple C2 And Transmembrane Domain Containing 2—resides on chromosome 15. It consists of 22 exons, encoding an 878-residue protein. This protein features three C2 domains, two transmembrane regions, and a short cytoplasmic C-terminal tail shared across species and isoforms.
Key Points:
- Expression and Tissue Distribution:
- MCTP2 is widely expressed in human tissues, with the highest levels observed in the heart during critical phases of primary heart tube maturation and morphogenesis.
- It is an integral component of the cell membrane.
- Function and Roles:
- Calcium Ion Binding: MCTP2 enables calcium ion binding activity.
- Neurotransmitter Regulation: Although not fully understood, MCTP2 may play a role in regulating neurotransmitter secretion.
- Lipid Metabolism: Genetic studies have linked variations in MCTP2 to left ventricular outflow tract obstructive forms of congenital heart disease (CHD).
In summary, MCTP2 remains an intriguing puzzle—a gene with implications for cardiac development and lipid biology. As research continues, we hope to decode its secrets and shed light on its significance in health and disease.
