CDAN1 : codanin 1
Description
The CDAN1 gene, located on chromosome 15, encodes for the protein cartilage-derived anaplastic lymphoma kinase (CDAN1). This protein plays a crucial role in collagen metabolism, particularly in the synthesis and assembly of type II collagen, a primary component of cartilage. CDAN1 acts as a receptor tyrosine kinase, receiving signals that regulate collagen production and maintenance of cartilage structure. Mutations in CDAN1 can disrupt this process, leading to a variety of developmental and skeletal disorders.
Associated Diseases
- Spondyloepiphyseal dysplasia, tarda type (SEDT)
- Spondyloepimetaphyseal dysplasia (SEMD)
- Kniest dysplasia
- Multiple epiphyseal dysplasia (MED)
- Cartilage-hair hypoplasia (CHH)
Did you know?
CDAN1 is involved in the development of a wide range of skeletal tissues, highlighting its importance in bone formation and growth.
