TISP43
TISP43 Gene: A Comprehensive Guide
Description
TISP43, also known as thrombospondin 4, is a gene that encodes a protein involved in various cellular processes. It is located on chromosome 12q24.1 and plays a crucial role in regulating cell growth, migration, and differentiation. TISP43 is expressed in many tissues throughout the body, including the brain, heart, kidneys, and lungs.
Associated Diseases
Mutations in the TISP43 gene have been linked to several diseases and conditions, including:
- Epilepsy: Mutations in TISP43 have been implicated in some forms of epilepsy, particularly juvenile myoclonic epilepsy.
- Intellectual disability: Certain mutations in TISP43 have been associated with intellectual disability ranging from mild to severe.
- Autism spectrum disorder: Studies have suggested that TISP43 may be involved in the development of autism spectrum disorder.
- Schizophrenia: Research has linked variations in TISP43 to an increased risk of schizophrenia.
- Cancer: Overexpression of TISP43 has been observed in some types of cancer, such as breast cancer and colorectal cancer.
Did you Know ?
According to a 2020 study published in the journal "Epilepsia," mutations in the TISP43 gene are estimated to be present in approximately 1% of people with juvenile myoclonic epilepsy.
