TYMP : thymidine phosphorylase

Description

The TYMP gene encodes the protein tyrosyl protein sulfotransferase 1 (TPST1), a key enzyme involved in the biosynthesis of collagen, a vital structural protein in connective tissues. TPST1 catalyzes the sulfation of tyrosine residues in specific collagen chains, a process essential for proper collagen assembly, stability, and function. This sulfation modification is crucial for the interaction of collagen with other extracellular matrix components, influencing its organization and strength. Mutations in the TYMP gene can lead to various collagen-related disorders, highlighting the critical role of TPST1 in maintaining tissue integrity and function.

Associated Diseases

• Ehlers-Danlos syndrome type VI (EDS VI, also known as kyphoscoliotic EDS)
• Osteogenesis imperfecta (OI)
• Spondyloepiphyseal dysplasia (SED)
• Stickler syndrome
• Congenital joint contractures

Did you know?

The TYMP gene is located on chromosome 17, a chromosome known to harbor many genes involved in skeletal development and connective tissue formation.