A4GALT
The A4GALT gene (Alpha 1,4-Galactosyltransferase (P1PK Blood Group)) encodes an enzyme called alpha-1,4-galactosyltransferase. This enzyme plays a crucial role in the synthesis of specific glycosphingolipids, which are complex fat molecules found on the surface of cells. These glycosphingolipids are important for various cellular functions, including cell signaling and interactions with other cells and molecules.
Associated Diseases:
While A4GALT is essential for normal cellular function, mutations in this gene have been associated with specific blood group phenotypes and a rare genetic disorder:
- P1PK Blood Group System: Variations in the A4GALT gene determine an individual‘s P1PK blood group phenotype, which is a classification based on the presence or absence of certain antigens on red blood cells.
- p phenotype: Individuals with mutations in the A4GALT gene can have a rare blood type called the p phenotype. People with this phenotype lack certain antigens on their red blood cells, which can lead to problems with blood transfusions and pregnancy complications.
- Fabry Disease (rare): Although not directly caused by mutations in A4GALT, this gene has been implicated in Fabry disease, a lysosomal storage disorder. Reduced activity of the enzyme encoded by A4GALT can contribute to the accumulation of specific glycosphingolipids, leading to the symptoms of Fabry disease.
Interesting Facts:
- Gene location: A4GALT is located on chromosome 22 in humans.
- Alternative splicing: A4GALT undergoes alternative splicing, producing multiple transcript variants that encode different isoforms of the enzyme.
- Tissue expression: A4GALT is expressed in various tissues, including the kidneys, pancreas, and intestines.
- Evolutionary conservation: The A4GALT gene is conserved across different species, suggesting its importance in biological processes.
