CASC1
Casc1: A Multifaceted Protein Involved in Diverse Biological Processes
Description
Casc1 (cancer susceptibility candidate 1), also known as FUSIP1 (fusion-in-sarcoma, identified on chromosome 1), is a multifunctional protein that plays crucial roles in various cellular processes, including:
- DNA repair
- Cell cycle regulation
- Transcription
- Chromatin remodeling
- Apoptosis
Casc1 is a large protein with a modular structure, consisting of several domains with distinct functions. It is highly conserved across species, suggesting its essential role in cellular biology.
Associated Diseases
Mutations or disruptions in the CASC1 gene have been implicated in the development of several diseases, including:
- Cancer: Casc1 is frequently dysregulated in various types of cancer, such as lung, breast, and prostate cancer. Mutations in CASC1 can affect DNA repair mechanisms, leading to genomic instability and enhanced cancer susceptibility.
- Neurological disorders: Casc1 is involved in the maintenance of neuronal function and is associated with neurodegenerative diseases such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS).
- Developmental disorders: Casc1 plays a role in embryonic development and its dysfunction has been linked to developmental malformations and mental disorders.
Did you Know ?
According to a study published in the journal "Nature Genetics," researchers found that individuals with a specific genetic variant of CASC1 have a 25% increased risk of developing lung cancer. This highlights the potential role of Casc1 variations in cancer susceptibility.
