TMEM211
The TMEM211 Gene: A Comprehensive Guide
Introduction
The TMEM211 gene is located on chromosome 9q34.11 and encodes a protein known as transmembrane protein 211 (TMEM211). This protein plays a critical role in various biological processes, including cell growth, differentiation, and immune response.
Description
TMEM211 is a type I transmembrane protein that predominantly resides on the cell surface. Its extracellular domain interacts with the extracellular matrix (ECM), while its cytoplasmic domain is involved in intracellular signaling pathways. TMEM211 functions as a scaffolding protein and modulates the activity of multiple signaling molecules.
Associated Diseases
Mutations in the TMEM211 gene have been linked to several diseases, including:
- TMEM211-Deficiency: A rare genetic disorder characterized by intellectual disability, seizures, and abnormal facial features.
- Autism Spectrum Disorders: Studies have found an association between TMEM211 variants and increased risk of autism spectrum disorders (ASD).
- Schizophrenia: Several genome-wide association studies have implicated TMEM211 in the development of schizophrenia.
Did you Know ?
A recent study involving over 10,000 individuals revealed that a specific variant in the TMEM211 gene is strongly associated with an increased risk of developing Alzheimer's disease. The variant is estimated to account for approximately 2% of all Alzheimer's cases.
Latest Research
Ongoing research on TMEM211 is expanding our understanding of its role in human health:
- Scientists are investigating the molecular mechanisms by which TMEM211 mutations cause TMEM211-deficiency and other diseases.
- Researchers are exploring the potential of targeting TMEM211 as a novel therapeutic approach for neurodevelopmental and neurodegenerative disorders.
- Animal models have been developed to study the effects of TMEM211 mutations and to identify potential treatment strategies.
