TWISTNB
Twistnb Gene: A Key Player in Development and Disease
Description
The twistnb gene (TWISTNB) encodes a protein that plays a crucial role in various biological processes, including embryonic development, cell differentiation, and organogenesis. It is located on chromosome 2p23.3 and contains 17 exons. The TWISTNB protein belongs to the basic helix-loop-helix (bHLH) family of transcription factors, which regulate gene expression by binding to specific DNA sequences.
Associated Diseases
Mutations in the TWISTNB gene have been linked to a range of diseases, including:
- Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis), distinctive facial features, and developmental delays.
- Pfeiffer Syndrome: Another rare craniosynostosis disorder with additional skeletal abnormalities, such as broad thumbs and toes.
- Jackson-Weiss Syndrome: A condition that affects connective tissue, leading to joint laxity, skin hyperextensibility, and skeletal anomalies.
- Miller-Dieker Syndrome: A severe neurodevelopmental disorder caused by a large deletion on chromosome 17 that includes the TWISTNB gene.
Did you Know ?
Over 90% of cases of Saethre-Chotzen Syndrome are caused by mutations in the TWISTNB gene.
