ZCCHC5
ZCCHC5 Gene: The Master Regulator of Gene Expression
Description
The ZCCHC5 gene is an essential genetic component that plays a pivotal role in regulating gene expression. It encodes the zinc finger CCCH-type containing 5 (ZCCHC5) protein, which is responsible for facilitating the assembly of RNA polymerase II complexes at gene promoters. By controlling the initiation of gene transcription, ZCCHC5 influences a wide range of cellular processes, from cell growth and differentiation to immune response and metabolism.
Associated Diseases
Dysregulation of the ZCCHC5 gene has been linked to several diseases:
- Cancers: ZCCHC5 mutations have been implicated in various cancers, including gastric cancer, lung cancer, and breast cancer. These mutations can lead to uncontrolled cell growth and tumor formation.
- Neurological disorders: ZCCHC5 deficiency is associated with neurodevelopmental disorders such as intellectual disability, autism spectrum disorder, and schizophrenia.
- Immune disorders: Dysregulated ZCCHC5 expression has been linked to autoimmune diseases, including systemic lupus erythematosus and rheumatoid arthritis.
Did you Know ?
ZCCHC5 is highly conserved throughout evolution, indicating its fundamental importance in cellular function. In fact, studies have shown that even a single-point mutation in the ZCCHC5 gene can have profound effects on gene expression patterns and cellular behavior.