TWSG1
Description
The TWSG1 (twisted gastrulation BMP signaling modulator 1) is a protein-coding gene located on chromosome 18.
Twisted gastrulation protein homolog 1 is a protein encoded by the TWSG1 gene in humans. It acts as a binding protein for bone morphogenetic proteins (BMPs), similar to Chordin. The Twisted gastrulation gene is expressed in extraembryonic tissues during organogenesis and in certain adult tissues, including lymph nodes, kidneys, liver, and lungs.
TWSG1 plays a crucial role in establishing the dorsoventral axis during embryonic development. It modulates BMP signaling by forming complexes with CHRD and BMPs, inhibiting BMP binding to their receptors. However, TWSG1 also exhibits pro-BMP activity by cleaving and degrading CHRD, thereby releasing BMPs from these complexes. Notably, TWSG1 acts as a key regulator of BMP-mediated cartilage development and chondrocyte differentiation, potentially influencing thymocyte development.
TWSG1 is also known as TSG.
Associated Diseases
- otodental syndrome
- Schimke immuno-osseous dysplasia
- autosomal recessive spondylocostal dysostosis
- osteomesopyknosis
- severe combined immunodeficiency due to LAT deficiency
- Eiken syndrome
- Spondyloenchondrodysplasia with immune dysregulation
- Camurati-Engelmann disease
- anophthalmia plus syndrome
- mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
