TMEM231
Description
TMEM231, also known as transmembrane protein 231, is a gene located on chromosome 11. It encodes a protein involved in various cellular functions, including protein trafficking, vesicle transport, and calcium signaling. TMEM231 plays a crucial role in maintaining cellular homeostasis and is implicated in the pathogenesis of several diseases. The protein encoded by this gene is localized to the endoplasmic reticulum, Golgi apparatus, and plasma membrane, suggesting its involvement in intracellular transport processes.
Associated Diseases
- Neurodevelopmental disorders: Mutations in TMEM231 have been linked to intellectual disability, autism spectrum disorder, and epilepsy.
- Cardiovascular diseases: TMEM231 may play a role in the development of heart disease and arrhythmias.
- Cancer: Studies suggest a possible association between TMEM231 expression and tumor growth and progression in certain cancers.
- Inflammatory bowel disease: TMEM231 has been implicated in the regulation of intestinal inflammation.
Did you know?
TMEM231 is highly conserved across species, indicating its importance for basic cellular functions.
