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.