C1orf204
c1orf204: An Unraveling Mystery in Human Health
Description
c1orf204 is a gene located on chromosome 1 in humans. It encodes a protein that plays a crucial role in cellular functions, particularly in the regulation of gene expression. The gene was identified through large-scale sequencing efforts and was initially known as an uncharacterized open reading frame (ORF). However, recent research has shed light on its significance in various biological processes.
Function and Mechanism
The c1orf204 protein interacts with specific DNA sequences, acting as a transcription factor. It either promotes or represses the transcription of genes, thereby influencing their expression levels. This regulatory role affects a wide range of cellular processes, including metabolism, cell growth, and response to stress.
Associated Diseases
Mutations or variations in the c1orf204 gene have been linked to several human diseases, including:
- Hepatocellular Carcinoma (HCC): A common type of liver cancer. Studies suggest that c1orf204 mutations disrupt cell cycle regulation, leading to uncontrolled cell proliferation and tumor formation.
- Colorectal Cancer (CRC): A cancer of the colon or rectum. Alterations in c1orf204 expression have been associated with CRC development and progression.
- Adipose Tissue Dysregulation: Mutations in c1orf204 have been found in individuals with obesity and metabolic disorders. This suggests a role for the gene in fat metabolism and body weight regulation.
Did you Know ?
- Approximately 1 in 1000 individuals carry a mutation in the c1orf204 gene, making it a relatively common genetic variation in the human population.
