RTFDC1
RTFDC1 Gene: A Comprehensive Guide
Description
The RTFTC1 gene, located on chromosome 12q24.31, encodes a protein known as the Regulator of Telomere Function and Chromosome 1 stability complex 1 (RTF1). RTF1 is essential for maintaining telomere stability, which is crucial for chromosome integrity and cell viability.
Associated Diseases
Mutations in the RTFTC1 gene have been linked to several rare genetic disorders, including:
- Hoyeraal-Hreidarsson syndrome: A condition characterized by microcephaly, intellectual disability, short stature, and distinctive facial features.
- Microcephalic dwarfism: A group of disorders characterized by severe microcephaly, growth retardation, and developmental delay.
- Cohesinopathy: A spectrum of disorders caused by mutations in genes involved in chromosome cohesion, including RTFTC1. Cohesinopathy can lead to a variety of problems, such as developmental delay, intellectual disability, and skeletal abnormalities.
Did you Know ?
Mutations in the RTFTC1 gene are estimated to occur in 1 in 1,000,000 people worldwide. However, due to the rarity of these disorders, the true prevalence may be underestimated.
