DSCR1

DSCR1, also known as Down syndrome candidate region 1, is a gene located on human chromosome 21. It plays a significant role in cellular signaling pathways, particularly in the calcineurin pathway. The protein encoded by DSCR1, DSCR1 or RCAN1 (Regulator of Calcineurin 1), acts as an inhibitor of calcineurin, a calcium-dependent phosphatase. By inhibiting calcineurin, DSCR1 influences a variety of cellular processes including gene transcription, muscle contraction, and immune responses.

The gene's name derives from its location within a critical region on chromosome 21 that is associated with Down syndrome. Individuals with Down syndrome have an extra copy of chromosome 21, leading to trisomy 21. This extra genetic material, including DSCR1, is thought to contribute to some of the characteristic features and developmental abnormalities observed in Down syndrome. Research has explored the function of DSCR1 in various tissues and its potential involvement in conditions beyond Down syndrome, including certain cancers and neurological disorders. The protein's ability to modulate calcineurin activity makes it a target of interest for understanding complex cellular regulation.