KIAA1377
The kuaa1377 Gene: An In-Depth Exploration
Description
The kuaa1377 gene, located on chromosome 11q13.3, encodes a protein known as chromosome 11q open reading frame 1. This protein belongs to a family of proteins characterized by a conserved amino acid sequence and an unknown function. While the precise role of the kuaa1377 gene is still being elucidated, research suggests its involvement in various biological processes.
Associated Diseases
Mutations in the kuaa1377 gene have been associated with several medical conditions, including:
- Congenital heart defects: Studies have identified a link between kuaa1377 mutations and specific types of congenital heart defects, such as atrial septal defects and ventricular septal defects.
- Intellectual disability: Mutations in kuaa1377 have been implicated in certain forms of intellectual disability, characterized by cognitive impairments and developmental delays.
- Autism spectrum disorder (ASD): Research suggests an association between kuaa1377 mutations and an increased risk of ASD, a neurodevelopmental disorder characterized by social and communication challenges.
Did you Know ?
Approximately 1% of individuals with congenital heart defects are estimated to carry mutations in the kuaa1377 gene. This highlights the significant role of this gene in heart development and emphasizes the need for further research to understand its impact.
