CHST11

CHST11

The CHST11 gene is located on chromosome 2.

CHST11 is a gene that encodes for the enzyme carbohydrate sulfotransferase 11. This enzyme is involved in the sulfation of carbohydrates, specifically the addition of sulfate groups to chondroitin sulfate and dermatan sulfate chains. The CHST11 gene is located on chromosome 2 in humans.

Function

The CHST11 enzyme plays a crucial role in the biosynthesis of sulfated glycosaminoglycans (GAGs), which are important components of the extracellular matrix and play a role in various biological processes. Specifically, CHST11 is responsible for the sulfation of chondroitin sulfate and dermatan sulfate chains, which are major GAGs found in connective tissues.

The sulfation of GAGs is essential for their proper function, as it affects their interactions with other molecules and proteins. Sulfated GAGs are involved in cell adhesion, signaling, and tissue development. By adding sulfate groups to chondroitin sulfate and dermatan sulfate chains, CHST11 contributes to the structural and functional diversity of GAGs.

Clinical Significance

Mutations in the CHST11 gene have been associated with skeletal dysplasia, a group of genetic disorders characterized by abnormal bone development and growth. These mutations can lead to a decrease in the activity of the CHST11 enzyme, resulting in impaired sulfation of chondroitin sulfate and dermatan sulfate chains.

The reduced sulfation of GAGs can disrupt the normal structure and function of connective tissues, leading to skeletal abnormalities. Some of the specific skeletal dysplasias associated with CHST11 mutations include Spondyloepiphyseal dysplasia Omani type and SEMD (spondyloepimetaphyseal dysplasia) with joint laxity.

See Also

• Glycosaminoglycans
• Extracellular matrix
• Skeletal dysplasia