KIAA0907
KIAA0907: A Protein with Intriguing Roles in Disease
Description
KIAA0907 is a protein encoded by the gene of the same name located on chromosome 22. It belongs to the Tubby-like protein family, which is characterized by its role in regulating cell growth and differentiation. KIAA0907 is predominantly expressed in the brain, heart, liver, and skeletal muscle.
Associated Diseases
KIAA0907 has been linked to several diseases, including:
- Neurodevelopmental disorders: Mutations in the KIAA0907 gene have been associated with intellectual disability, autism spectrum disorder, and microcephaly (a condition characterized by an unusually small head size).
- Cardiovascular disease: KIAA0907 plays a role in regulating blood pressure and heart function. Mutations in the gene have been linked to an increased risk of hypertension and heart failure.
- Hepatic disorders: KIAA0907 is involved in liver regeneration and metabolism. Mutations in the gene have been associated with non-alcoholic fatty liver disease and hepatocellular carcinoma (a type of liver cancer).
- Musculoskeletal disorders: KIAA0907 is essential for normal muscle development and function. Mutations in the gene have been associated with skeletal muscle atrophy and weakness.
Did you Know ?
- Approximately 1 in 100,000 people have a mutation in the KIAA0907 gene that causes an intellectual disability.
