SLC25A51P1
SLC2A51P1 Gene: An Essential Player in Human Health
Introduction:
The SLC2A51P1 gene is an intriguing genetic sequence responsible for encoding the solute carrier family 2 member 51 pseudogene 1 protein. This protein plays a crucial role in various cellular processes and has garnered significant attention in the field of medical research due to its association with several health conditions.
Description:
SLC2A51P1 is located on chromosome 19q13.2 and encodes a 218-amino acid protein known as GLUT5. This protein belongs to the solute carrier family 2, which facilitates the transport of glucose across cell membranes. GLUT5 primarily transports fructose, a naturally occurring sugar, into cells.
Associated Diseases:
Mutations in the SLC2A51P1 gene have been linked to the following conditions:
- Essential Fructosuria: A rare inherited disorder characterized by the inability to metabolize fructose. This leads to an accumulation of fructose in the body, which can cause liver damage and other complications.
- Type 2 Diabetes: While not a direct cause, mutations in SLC2A51P1 have been associated with an increased risk of developing type 2 diabetes.
Did you Know ?
According to a study published in 2020, approximately 1 in 13,000 individuals carries a mutation in the SLC2A51P1 gene. The prevalence of essential fructosuria is even lower, affecting roughly 1 in 100,000 people worldwide.
