CYLC1
CYLC1: A Multifaceted Gene with Diverse Roles and Disease Associations
Description
CYLC1 (cyclin-1-like) is a gene located on chromosome 19q13.11. It encodes a protein known as cyclin-dependent kinase 4 inhibitor B (p15INK4B). p15INK4B is a cyclin-dependent kinase (CDK) inhibitor that plays a crucial role in regulating cell cycle progression. CDKs are enzymes that drive the cell cycle by phosphorylating various target proteins. p15INK4B inhibits CDK4 and CDK6, which prevents cells from progressing from the G1 to the S phase of the cell cycle.
Associated Diseases
CYLC1 mutations have been linked to several diseases, including:
1. Multiple Endocrine Neoplasia Type 1 (MEN1): MEN1 is an inherited disorder characterized by the development of various endocrine tumors, such as tumors of the parathyroid, pituitary, and pancreas. It is caused by mutations in the MEN1 gene, which encodes a protein called menin. CYLC1 is a target gene of menin, and alterations in its expression or function can contribute to the development of MEN1-associated tumors.
2. Parathyroid Adenomas: Parathyroid adenomas are non-cancerous tumors of the parathyroid glands. They lead to excessive production of parathyroid hormone (PTH), resulting in hyperparathyroidism. Mutations in CYLC1 have been identified in familial and sporadic cases of parathyroid adenomas.
3. Wilms' Tumor: Wilms' tumor is a type of kidney cancer that primarily affects children. Mutations in CYLC1 have been associated with an increased risk of developing Wilms' tumor, particularly in children with a family history of the disease.
Did you Know ?
- It is estimated that approximately 20% of MEN1 patients carry mutations in the CYLC1 gene, making it one of the most common genetic alterations associated with MEN1.
