COLQ : collagen like tail subunit of asymmetric acetylcholinesterase
Description
The COLQ gene encodes for collagen type IX, a fibrillar collagen found in cartilage, tendons, and other connective tissues. This protein plays a crucial role in the proper formation and function of these tissues, contributing to their strength and flexibility. Mutations in the COLQ gene can lead to a range of inherited disorders, primarily affecting the skeletal system. These conditions are often characterized by bone deformities, joint pain, and impaired mobility.
Associated Diseases
- Multiple Epiphyseal Dysplasia (MED)
- Schmid type spondyloepiphyseal dysplasia (SED)
- Kniest dysplasia
- Stickler syndrome type II
- Spondyloepiphyseal dysplasia congenita
- Platyspondyly with short stature
Did you know?
Mutations in the COLQ gene can cause a wide spectrum of skeletal disorders, highlighting the diverse roles of collagen type IX in cartilage and bone development.
