TMEM173
TMEM173 Gene: Exploring its Role in Health and Disease
Description:
The TMEM173 gene, also known as transmembrane protein 173, encodes a protein located on the surface of cells called the cell membrane. This protein functions as a channel, allowing ions such as sodium and potassium to pass through it. TMEM173 plays a crucial role in regulating cellular function and maintaining electrical balance within cells.
Associated Diseases:
Mutations in the TMEM173 gene have been linked to a rare genetic disorder called intellectual disability with microcephaly (IDMC). Individuals with IDMC experience intellectual disability, delayed development, and a small head size. Other symptoms may include autism spectrum disorder, seizures, and abnormal brain development.
Did you Know ?
Research has shown that mutations in the TMEM173 gene account for approximately 1% of cases of intellectual disability with microcephaly. This highlights the significant impact that this gene has on neurodevelopment.
