SETD8
The setd8 Gene: An Intriguing Enigma in Human Health
Description
The setd8 gene, located on chromosome 1q21.1, encodes a protein known as histone methyltransferase SetD8. This protein plays a crucial role in regulating gene expression by attaching methyl groups to specific histones, which are proteins that package DNA. Methylation of histones influences which genes are activated or repressed, ultimately shaping cellular functions and development.
Associated Diseases
Mutations in the setd8 gene have been linked to several human diseases, including:
- Schizophrenia: Individuals with schizophrenia have been found to have alterations in the setd8 gene, suggesting its involvement in the development and progression of the disorder.
- Intellectual Disability: Mutations in setd8 have also been associated with intellectual disability, particularly in individuals with microcephaly (abnormally small head size).
- Autism Spectrum Disorder (ASD): Studies have identified correlations between variations in the setd8 gene and an increased risk of ASD.
- Cancer: Aberrant setd8 activity has been implicated in the development of certain types of cancer, including breast, prostate, and leukemia.
Did you Know ?
Recent research suggests that approximately 1 in 10,000 individuals carry a mutation in the setd8 gene. Understanding the impact of these mutations is crucial for unraveling the genetic basis of various diseases.
