DVL1 : dishevelled segment polarity protein 1
Description
The DVL1 (dishevelled segment polarity protein 1) is a protein-coding gene located on chromosome 1.
The DVL1 gene provides instructions for making a protein that is essential for development before birth. It is one of three DVL genes in humans, and the proteins they produce work together in Wnt signaling pathways. These pathways control gene activity and cell interactions during embryonic development. DVL1 signaling is crucial for the normal development of the brain, skeleton, and many other body parts.
DVL1 is a key player in Wnt signaling. It binds to the cytoplasmic tail of Frizzled receptors, a family of proteins that receive Wnt signals, and transmits these signals to downstream effectors. DVL1 is involved in both the canonical and non-canonical Wnt pathways, which regulate various developmental processes. It plays a role in the signal transduction pathways triggered by multiple Wnt genes. DVL1 is essential for the activation of LEF1 transcription factor in response to WNT1 and WNT3A signaling. In collaboration with PAK1, DVL1 forms a complex with MUSK, which is critical for MUSK-dependent regulation of acetylcholine receptor (AChR) clustering during the formation of the neuromuscular junction (NMJ).
DVL1 is also known as DRS2, DVL, DVL1L1, DVL1P1.
Associated Diseases
- Robinow syndrome, autosomal dominant 1
- Robinow syndrome, autosomal dominant 2
- Autosomal dominant Robinow syndrome
- Robinow syndrome
