DGCR14
dgcr14: The Mastermind of miRNA Processing
Description
DiGeorge syndrome critical region gene 14 (dgcr14) is a crucial gene located on chromosome 22q11.2. It encodes a protein called DiGeorge syndrome chromosomal region 8 (DGCR8), which plays a central role in the biogenesis of microRNAs (miRNAs). miRNAs are small, non-coding RNA molecules that regulate gene expression by silencing or degrading target mRNA. The disruption of dgcr14 function can lead to severe developmental disorders and diseases.
Associated Diseases
Mutations in dgcr14 are associated with a range of diseases, including:
- DiGeorge syndrome: A rare genetic disorder characterized by immune system problems, heart defects, and developmental delays.
- Velocardiofacial syndrome: A similar disorder to DiGeorge syndrome, but with milder symptoms.
- Autism spectrum disorder: A neurodevelopmental disorder that can include social and communication difficulties, repetitive behaviors, and restricted interests.
- Cancer: dgcr14 mutations have been linked to the development of certain types of cancer, such as lung cancer, breast cancer, and leukemia.
Did you Know ?
Approximately 1 in 4000 live births are affected by DiGeorge syndrome, which makes it one of the most common genetic causes of developmental disabilities.
