SKIV2L : Ski2 like RNA helicase
Description
SKIV2L, also known as the Ski2-like helicase, is a crucial protein involved in the intricate machinery of RNA surveillance within cells. It acts as a molecular 'housekeeper', ensuring the proper processing and degradation of aberrant or unnecessary RNA transcripts. This vital function safeguards cellular integrity by preventing the accumulation of faulty RNA molecules that could disrupt vital processes. The SKIV2L gene encodes this protein, and its mutations can lead to a spectrum of diseases, highlighting its essential role in maintaining cellular homeostasis.
Associated Diseases
- **Dyskeratosis Congenita (DC)**: A rare genetic disorder characterized by abnormal skin, nails, and bone marrow function, often linked to mutations in SKIV2L.
- **Ataxia-Telangiectasia-Like Disorder (ATLD)**: A neurodevelopmental disorder with features similar to Ataxia-Telangiectasia, including cerebellar ataxia, immunodeficiency, and increased cancer susceptibility.
- **Other Rare Genetic Disorders:** SKIV2L mutations have also been associated with a range of other rare disorders, including intellectual disability, developmental delay, and premature aging.
Did you know?
SKIV2L is a member of the 'DEAH-box' helicase family, known for their ability to unwind double-stranded RNA, a crucial step in RNA degradation.
