USP26
USP26 Gene: Unlocking its Role in Health and Disease
Description
The USP26 gene, also known as ubiquitin-specific peptidase 26, is a vital component of the cellular machinery responsible for protein degradation. It encodes an enzyme that removes ubiquitin tags from target proteins, influencing their stability, function, and degradation pathways. The USP26 gene plays a critical role in regulating various cellular processes, including cell division, DNA repair, and immune responses.
Associated Diseases
Mutations in the USP26 gene have been linked to several human diseases, including:
- Coffin-Siris syndrome: A rare genetic disorder characterized by distinctive facial features, intellectual disability, and developmental delays.
- Microcephaly with corpus callosum agenesis: A severe condition characterized by an abnormally small head size and the absence of the corpus callosum, a brain structure that connects the brain hemispheres.
- Pontocerebellar hypoplasia: A neurodevelopmental disorder that affects the development of the brainstem and cerebellum, resulting in severe neurological impairments.
- Other developmental disorders: Mutations in USP26 have also been associated with intellectual disability, autism spectrum disorder, and seizures.
Did you Know ?
- Approximately 1 in 100,000 individuals worldwide are affected by Coffin-Siris syndrome, which is caused by mutations in the USP26 gene.
