JMJD1C
JMJD1C: A Vital Gene Involved in Cellular Processes
Description
JMJD1C, also known as KDM4C, is a member of the Jumonji C (JmjC) family of proteins. These proteins are characterized by their ability to demethylate histone proteins, which are responsible for packaging DNA and regulating gene expression. JMJD1C is specifically responsible for removing methyl groups from the H3K9me3 histone mark. This mark is associated with transcriptional repression, and its removal by JMJD1C allows for gene activation.
Associated Diseases
Mutations in the JMJD1C gene have been linked to several developmental disorders and cancers. These include:
- Kabuki syndrome: A genetic disorder characterized by distinctive facial features, intellectual disability, and growth delays.
- Cleavage lip and palate (CLP): A birth defect that occurs when the lip and/or palate do not fuse together properly during pregnancy.
- Breast cancer: JMJD1C is involved in the development and progression of breast cancer, where it promotes tumor growth and metastasis.
- Lung cancer: JMJD1C is also implicated in the development of lung cancer, where it contributes to cell proliferation and survival.
Did you Know ?
JMJD1C is one of the most highly mutated genes in human cancers. Mutations in JMJD1C are found in approximately 10% of breast cancers and 15% of lung cancers.
