DSCR8

Description

The DSCR8 (Down syndrome critical region 8) is a ncRNA gene located on chromosome 21.

DSCR8, also known as Calcipressin 1, is a protein encoded by the DSCR8 gene in humans. This gene is located on chromosome 21 and is part of the calcineurin-binding protein family. The DSCR8 protein is a calcium-binding protein that interacts with calcineurin, a phosphatase involved in regulating gene expression, cell growth, and immune function. DSCR8 is expressed in various tissues, including the brain, heart, and skeletal muscle. It is thought to have a role in neuronal growth and development, synaptic plasticity, calcium signaling regulation, and neuronal protection from stress-induced damage. Research suggests a potential link between DSCR8 and neurological disorders like autism spectrum disorder and intellectual disability, but further research is necessary to clarify its precise function in these conditions.

The DSCR8 protein is thought to play a role in the regulation of neuronal growth and development, as well as in the modulation of synaptic plasticity. It may also be involved in the regulation of calcium signaling and in the protection of neurons from stress-induced damage. Studies have suggested that DSCR8 may have a role in the development of certain neurological disorders, such as autism spectrum disorder and intellectual disability. However, further research is needed to clarify the exact function of DSCR8 in these conditions.

DSCR8 is also known as C21orf65, CT25.1a, CT25.1b, MMA-1, MMA-1a, MMA-1b, MMA1, MTAG2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing