COL13A1
Description
The COL13A1 gene encodes collagen type XIII, a multidomain protein involved in various cellular processes, including cell adhesion, migration, and extracellular matrix (ECM) assembly. This gene plays a critical role in skeletal development and homeostasis, particularly in cartilage and bone. Mutations in COL13A1 have been linked to several skeletal disorders, highlighting its importance in maintaining tissue integrity and function.
Associated Diseases
- Multiple Epiphyseal Dysplasia (MED)
- Spondyloepiphyseal Dysplasia (SED)
- Kniest Dysplasia
- Stickler Syndrome
- Ehlers-Danlos Syndrome
Did you know?
COL13A1 is a transmembrane protein, meaning it spans the cell membrane, connecting the intracellular and extracellular environments.
