PA2G4
pa2g4 Gene: Unraveling Its Significance in Health and Disease
Description
The pa2g4 gene, located on the short arm of chromosome 1 (1p31.3), encodes a protein known as the promiscuous activating antigen 2G4 (PA2G4). This gene plays crucial roles in various biological processes, including apoptosis, cell signaling, and immune response.
Associated Diseases
Mutations in the pa2g4 gene have been implicated in several diseases, including:
1. Chronic Lymphocytic Leukemia (CLL): Mutations in pa2g4 are found in approximately 10-20% of CLL cases. These mutations lead to the overexpression of PA2G4, contributing to the uncontrolled proliferation and survival of CLL cells.
2. Myeloid Dysplastic Syndromes (MDS): pa2g4 mutations occur in about 5% of MDS patients. These mutations disrupt the normal function of PA2G4, promoting cell death and bone marrow failure.
Did you Know ?
A notable statistic regarding the pa2g4 gene is that people with mutations in both copies of the gene (homozygous mutations) have a significantly higher risk of developing CLL compared to those with mutations in only one copy (heterozygous mutations).
