TMEM8A
The tmem8a Gene: Unraveling its Role in Health and Disease
Description
The trans-membrane protein 8a gene, commonly known as tmem8a, is a crucial component of the cell membrane that spans its lipid bilayer. It encodes a protein that plays a vital role in various cellular processes, including membrane stability, cell adhesion, and signal transduction. Located on chromosome 14q11.2, the tmem8a gene is highly conserved across different species, suggesting its essential biological functions.
Functions of the tmem8a Protein:
The tmem8a protein is involved in:
- Membrane stability: It helps maintain the integrity of the cell membrane by forming interactions with other membrane proteins and lipids.
- Cell adhesion: It facilitates cell-cell interactions and attachment to the extracellular matrix, enabling cells to form tissues and organs.
- Signal transduction: It participates in the transmission of signals across the cell membrane, influencing cellular responses to external stimuli.
Associated Diseases
Malfunctions in the tmem8a gene have been linked to several human diseases, including:
- Inherited retinal degenerations: Mutations in tmem8a are a major cause of retinitis pigmentosa, a group of inherited eye disorders that lead to progressive vision loss.
- Neurological disorders: Alterations in tmem8a have been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease.
- Cancer: Increased expression of tmem8a has been associated with the development and progression of certain types of cancer, including breast and lung cancer.
Did you Know ?
- Approximately 1 in 4,000 individuals worldwide has an inherited mutation in the tmem8a gene, making it one of the most common genetic causes of retinitis pigmentosa.
