FBXW11
Description
FBXW11 (F-box and WD repeat domain-containing 11) is a gene that encodes a protein involved in ubiquitination, a cellular process that targets proteins for degradation. FBXW11 is an essential component of the Skp1-Cullin-F-box (SCF) complex, a multi-subunit E3 ubiquitin ligase that regulates protein stability and cellular signaling pathways.
Associated Diseases
FBXW11 mutations have been implicated in a range of diseases, including cancer, neurodegenerative disorders, and developmental abnormalities.
- Cancer: FBXW11 mutations are commonly found in various types of cancers, including leukemia, breast cancer, lung cancer, and colon cancer. These mutations can lead to the dysregulation of cell cycle control, tumor growth, and metastasis.
- Neurodegenerative diseases: FBXW11 mutations have been associated with neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). These mutations may contribute to neuronal dysfunction and disease progression.
- Developmental abnormalities: FBXW11 mutations can also cause developmental abnormalities, including craniofacial malformations, intellectual disability, and skeletal disorders.
Did you Know ?
A study published in the journal Nature Genetics found that FBXW11 mutations are present in approximately 1% of individuals with leukemia, making it one of the most frequently mutated genes in this type of cancer.
