TSPY2
The tpsy2 Gene: Unraveling its Role in Neurodevelopment and Disease
Description
The tpsy2 gene, located on chromosome 16p13.3, encodes a protein known as the testis-specific Y-encoded protein 2. This protein is involved in various cellular processes, including transcriptional regulation, cell cycle control, and ribosome biogenesis. The tpsy2 gene is highly expressed in the testis and is believed to play a crucial role in spermatogenesis.
Associated Diseases
Mutations in the tpsy2 gene have been linked to several diseases, including:
- Microcephaly: A condition characterized by an abnormally small head circumference, often associated with intellectual disability.
- Congenital heart defects: Heart abnormalities present at birth, such as septal defects or valve malformations.
- Infertility: Impaired ability to conceive or carry a pregnancy to term.
- Obesity: A chronic condition characterized by excessive body fat.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide is affected by a mutation in the tpsy2 gene, making it a relatively rare genetic disorder.
