CHST4

CHST4

The CHST4 gene is located on chromosome 16.

CHST4 is a gene that encodes for the enzyme chondroitin 4-O-sulfotransferase 1. This enzyme is involved in the biosynthesis of chondroitin sulfate, a major component of the extracellular matrix in various tissues. The CHST4 gene is located on chromosome 16 in humans.

Function

The CHST4 gene codes for the enzyme chondroitin 4-O-sulfotransferase 1, which is responsible for the addition of sulfate groups to chondroitin sulfate chains. Chondroitin sulfate is a type of glycosaminoglycan (GAG) that is found in the extracellular matrix of connective tissues, such as cartilage and bone. The addition of sulfate groups to chondroitin sulfate chains is crucial for their proper function in cell adhesion, signaling, and tissue development.

Role in Development

During embryonic development, CHST4 plays a critical role in the formation and organization of various tissues. Studies have shown that mice lacking the CHST4 gene exhibit skeletal abnormalities, including defects in cartilage and bone development. This suggests that CHST4 is essential for the proper formation and maintenance of these tissues.

Clinical Significance

Mutations in the CHST4 gene have been associated with skeletal dysplasias, a group of genetic disorders characterized by abnormal bone and cartilage development. These mutations can lead to a decrease in the activity of chondroitin 4-O-sulfotransferase 1, resulting in impaired chondroitin sulfate synthesis. This disruption in chondroitin sulfate production can have detrimental effects on tissue development and function.

See Also

• Chondroitin sulfate
• Extracellular matrix
• Glycosaminoglycan
• Skeletal dysplasia