CHST14

CHST14

The CHST14 gene is located on chromosome 15.

CHST14 is a gene that encodes for the enzyme carbohydrate sulfotransferase 14. This enzyme is involved in the sulfation of carbohydrates, specifically the addition of sulfate groups to chondroitin sulfate chains. The CHST14 gene is located on chromosome 15 and is expressed in various tissues throughout the body.

Structure

The CHST14 gene spans approximately 20 kilobases and consists of 9 exons. It encodes for a protein that is composed of 406 amino acids. The protein contains a conserved sulfotransferase domain, which is responsible for the enzymatic activity of CHST14.

Function

The main function of CHST14 is to catalyze the sulfation of chondroitin sulfate chains. Chondroitin sulfate is a type of glycosaminoglycan (GAG) that is found in the extracellular matrix of connective tissues. Sulfation of chondroitin sulfate chains is crucial for their proper function in various biological processes, including cell adhesion, tissue development, and signaling.

Clinical Significance

Mutations in the CHST14 gene have been associated with a rare genetic disorder known as Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2). This syndrome is characterized by joint contractures, muscle hypotonia, and distinctive facial features. The mutations in CHST14 lead to a deficiency or dysfunction of the carbohydrate sulfotransferase 14 enzyme, resulting in abnormal sulfation of chondroitin sulfate chains. This disrupts the normal structure and function of connective tissues, leading to the symptoms observed in EDSMC2.

See Also

• Ehlers-Danlos syndrome
• Glycosaminoglycan
• Extracellular matrix
• Connective tissue