SNUPN
The SNUPN Gene: A Key Player in Maintaining Genomic Stability
Introduction
The SNUPN gene, located on chromosome 17, plays a crucial role in maintaining the integrity and stability of our genome. It encodes a protein called Smurf1-interacting protein 1 (SNUPN), which is involved in several important cellular processes, including DNA damage repair and gene regulation.
Description
SNUPN is a 559-amino acid protein that is highly conserved across species. It contains multiple conserved domains, including a zinc finger domain, a helicase-like domain, and a coiled-coil domain. These domains are essential for SNUPN‘s function in regulating gene expression and maintaining genomic stability.
Associated Diseases
Mutations in the SNUPN gene have been linked to several human diseases, including:
- Bloom syndrome: This rare autosomal recessive disorder is characterized by a pronounced growth deficiency, facial abnormalities, and increased susceptibility to cancer.
- Intervertebral disc disease: SNUPN mutations have been associated with an increased risk of developing intervertebral disc degeneration, which can lead to back pain and disability.
- Cancer: Studies have shown that SNUPN mutations can promote tumor growth and metastasis in certain types of cancer, such as breast cancer and lung cancer.
Did you Know ?
- Bloom syndrome, caused by SNUPN mutations, affects approximately 1 in 100,000 people worldwide.
