KIAA1683
Kiaa1683: A Comprehensive Overview
Description
Kiaa1683 is a gene that encodes a protein of the same name. This protein is localized to the nucleus of cells and plays a crucial role in the regulation of gene expression. Specifically, kiaa1683 is involved in the acetylation of histones, which are proteins that package DNA into chromatin. Acetylation of histones alters the structure of chromatin, making it more accessible to transcription factors and facilitating gene activation.
Associated Diseases
Mutations in the kiaa1683 gene have been linked to several human diseases, including:
- Intellectual disability: Mutations in kiaa1683 can cause intellectual disability, characterized by impaired cognitive abilities and difficulty with adaptive behavior.
- Craniofacial abnormalities: Some individuals with kiaa1683 mutations may have craniofacial abnormalities, such as a prominent forehead, wide-set eyes, and a flat nasal bridge.
- Eye malformations: Mutations in kiaa1683 can also lead to eye malformations, including cataracts, optic nerve hypoplasia, and microphthalmia (small eyes).
Did you Know ?
Approximately 1 in 50,000 individuals worldwide is affected by a mutation in the kiaa1683 gene. This makes kiaa1683-related disorders relatively rare, but they can have significant impacts on the affected individuals and their families.
