SNED1
The sned1 Gene: A Crucial Player in Development and Health
Description
The sned1 gene, also known as the small nuclear ribonucleoprotein polypeptide D1 homolog, encodes a protein that plays a vital role in various cellular processes, including RNA splicing. RNA splicing is essential for gene expression, as it removes non-coding regions (introns) from messenger RNA (mRNA) to create functional proteins.
Associated Diseases
Mutations in the sned1 gene have been linked to several rare genetic disorders, including:
- Spinal Muscular Atrophy with Respiratory Distress (SMARD1): A severe neuromuscular disorder characterized by muscle weakness, breathing difficulties, and developmental delays.
- Arthrogryposis Multiplex Congenita (AMC): A condition causing stiff joints and muscle contractures at birth.
- Congenital Cataracts: A condition present at birth where the lens of the eye becomes cloudy, obstructing vision.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in the sned1 gene are estimated to be responsible for approximately 6% of cases of SMARD1.
