ZBTB34
The zbtb34 Gene: A Key Player in Development and Disease
Description
The zbtb34 gene, also known as the zinc finger and BTB domain containing 34 gene, is a crucial gene involved in various biological processes, including development, cell differentiation, and disease. It encodes a protein known as ZBTB34, which belongs to the Kruppel-like zinc finger family of transcription factors.
Associated Diseases
Mutations in the zbtb34 gene have been linked to several human diseases, including:
- Beckwith-Wiedemann Syndrome (BWS): A genetic disorder characterized by an overgrowth of certain body parts and an increased risk of childhood cancer.
- Biphenotypic Leukemia: A rare type of leukemia that affects both myeloid and lymphoid cells.
- Trichorhinophalangeal Syndrome Type III (TRPS III): A rare genetic disorder that causes abnormal hair growth, skeletal deformities, and intellectual disability.
- Neurodevelopmental disorders: Studies have shown that mutations in zbtb34 can be associated with developmental delays, intellectual disability, and autism spectrum disorder.
Did you Know ?
According to the National Institutes of Health (NIH), zbtb34 mutations account for approximately 5% of cases of Beckwith-Wiedemann Syndrome.
