CCDC151
CCDC151: A Detailed Overview
Introduction
CCDC151 (Coiled-Coil Domain Containing 151) is a protein-coding gene located on chromosome 15q15.1. It plays a crucial role in various cellular processes, including cell cycle progression, DNA damage response, and immune regulation. Dysregulation of CCDC151 has been linked to a range of diseases, making it an important target for research and therapeutic interventions.
Description
CCDC151 is a large protein composed of 1,110 amino acids. It contains several functional domains, including a coiled-coil domain, a leucine zipper domain, and an F-box domain. The coiled-coil domain facilitates protein-protein interactions, while the leucine zipper domain mediates dimerization. The F-box domain binds to the Skp1-Cullin-F-box (SCF) complex, which is involved in targeted protein degradation.
Associated Diseases
Mutations or dysregulation of CCDC151 have been implicated in several diseases, including:
- Hereditary breast and ovarian cancer (HBOC): Mutations in CCDC151 have been identified in some families with an inherited risk of breast and ovarian cancer.
- Ovarian cancer: CCDC151 loss or reduced expression is associated with increased risk and poor prognosis in ovarian cancer patients.
- Prostate cancer: Downregulation of CCDC151 is associated with increased cell proliferation and decreased apoptosis in prostate cancer cells.
- Retinoblastoma: Mutations in CCDC151 have been found in a subset of retinoblastoma patients, particularly those with a germline mutation in the RB1 gene.
Did you Know ?
Approximately 1 in 500 individuals carries a mutation in the CCDC151 gene, making it a relatively common cause of cancer predisposition.
