CHST7

CHST7

The CHST7 gene is located on chromosome 2.

CHST7 (Carbohydrate Sulfotransferase 7) is a gene that encodes an enzyme involved in the sulfation of carbohydrates. It is located on chromosome 2 in humans. The CHST7 gene 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.

Structure and Function

The CHST7 gene consists of 8 exons and spans approximately 10 kilobases. The encoded enzyme, CHST7, belongs to the sulfotransferase family and specifically catalyzes the transfer of sulfate groups to the 6-O position of N-acetylgalactosamine (GalNAc) residues in GAG chains. This sulfation modification is essential for the proper function of GAGs, as it influences their interactions with various proteins and signaling molecules.

Role in Biological Processes

CHST7-mediated sulfation of GAGs is involved in several important biological processes, including cell adhesion, cell migration, and tissue development. The sulfation patterns generated by CHST7 contribute to the structural diversity of GAGs, allowing them to interact with specific proteins and regulate various cellular activities.

Clinical Significance

Mutations in the CHST7 gene have been associated with skeletal dysplasia, a group of genetic disorders characterized by abnormal bone development. These mutations can disrupt the normal sulfation of GAGs, leading to impaired interactions with growth factors and signaling molecules involved in bone formation. As a result, individuals with CHST7 mutations may experience skeletal abnormalities and growth defects.

See Also

• Glycosaminoglycans
• Extracellular matrix
• Sulfotransferase
• Skeletal dysplasia

External Links

• CHST7 gene at NCBI
• CHST7 gene at Genetics Home Reference