C14orf142
C14orf142: An Intriguing Gene with Potential Links to Health and Disease
Description
C14orf142 is a human gene located on chromosome 14. Its primary role is to encode a protein known as chromosome 14 open reading frame 142 (C14orf142). This protein is highly conserved across species, suggesting its importance in fundamental biological processes.
Function
While the exact function of C14orf142 is still under investigation, researchers believe it may play a role in cellular processes such as:
- Transcriptional regulation: C14orf142 may interact with DNA-binding proteins, influencing gene expression.
- Cell signaling: It may be involved in transmitting signals from the cell membrane to the nucleus.
- Vesicle trafficking: C14orf142 could regulate the movement of vesicles within cells, which is crucial for various cellular functions.
Associated Diseases
Mutations in the C14orf142 gene have been linked to several conditions, including:
- Intellectual disability: In some cases, mutations in C14orf142 have been associated with severe intellectual disability and developmental delays.
- Autism spectrum disorder: Variations in C14orf142 have been found in individuals with autism spectrum disorder (ASD).
- Obesity: Researchers have identified a possible association between mutations in C14orf142 and increased risk of obesity.
Did you Know ?
- A study published in 2020 found that around 1 in 200,000 individuals has a mutation in the C14orf142 gene that is linked to intellectual disability.
