TCFL5
tcfl5 Gene: A Comprehensive Guide
Description
The tcfl5 gene, also known as transcription factor-like 5, is located on chromosome 3q26.2-q26.32 in humans. It encodes a transcription factor that plays a crucial role in regulating the development and function of various tissues and organs.
Transcription factors are proteins that bind to specific DNA sequences and control the expression of genes. Tcfl5 is involved in the regulation of several signaling pathways, including the Wnt and Notch pathways, which are essential for cell growth, differentiation, and development.
Associated Diseases
Mutations in the tcfl5 gene have been linked to a number of rare genetic disorders, including:
- T-cell acute lymphoblastic leukemia (T-ALL): A type of leukemia that affects T cells, a type of white blood cell.
- Congenital anomalies of the kidney and urinary tract (CAKUT): A group of birth defects that affect the development of the kidneys and urinary tract.
- Joubert syndrome: A rare genetic disorder characterized by cerebellar ataxia, intellectual disability, and eye movement abnormalities.
- Occipital encephalocele: A birth defect in which the brain protrudes through an opening in the back of the skull.
Did you Know ?
- Mutations in the tcfl5 gene are estimated to occur in approximately 1 in 25,000 individuals.
