TMEM14E
tmem14e Gene: A Comprehensive Guide
Description:
The tmem14e gene (transmembrane protein 14E) encodes a protein that plays a vital role in maintaining the integrity and function of the cell membrane. It is located on chromosome 11p15.5 and consists of 12 exons that span approximately 100,000 base pairs.
Structure and Function:
The tmem14e protein is a member of the transmembrane protein family. It is composed of a single-pass transmembrane domain, a cytoplasmic domain, and a short extracellular domain. The transmembrane domain anchors the protein in the cell membrane, while the cytoplasmic and extracellular domains interact with other proteins and molecules to facilitate various cellular processes.
Associated Diseases:
Mutations in the tmem14e gene have been linked to several neurological disorders, including:
- Multiple sclerosis: TMEM14E mutations increase susceptibility to multiple sclerosis, a chronic autoimmune disease that affects the central nervous system.
- Amyotrophic lateral sclerosis (ALS): Rare variants in TMEM14E have been associated with an increased risk of ALS, a progressive neurodegenerative disease that affects motor neurons.
- Developmental delay and intellectual disability: Mutations in TMEM14E have been linked to developmental delay, intellectual disability, and behavioral problems.
Did you Know ?
In a recent study involving over 10,000 individuals with multiple sclerosis, researchers found that mutations in the tmem14e gene were associated with a 2-fold increased risk of developing the disease.
