TMEM225
TMEM225 Gene: Unraveling its Role in Human Health
Description
TMEM225 (Transmembrane Protein 225) is a gene located on chromosome 1p36.22. It encodes a protein that plays a crucial role in various cellular processes, including calcium homeostasis, cell adhesion, and immune response. TMEM225 is expressed in various tissues, including the brain, heart, lungs, and kidneys.
Associated Diseases
Mutations in the TMEM225 gene have been associated with several human diseases, including:
- Haemachromatosis: A genetic disorder characterized by excessive iron absorption, leading to iron accumulation in the liver and other organs.
- Aceruloplasminemia: A rare genetic disorder that affects copper metabolism, resulting in low levels of ceruloplasmin, a protein that helps transport copper in the blood.
- Parkinson's disease: A neurodegenerative disorder that affects movement and balance.
- Alzheimer's disease: A neurodegenerative disorder characterized by memory loss and cognitive impairment.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide is affected by aceruloplasminemia, a rare disease caused by mutations in the TMEM225 gene.
