CHST12

CHST12

The CHST12 gene is located on chromosome 7.

CHST12 is a gene that is responsible for encoding the enzyme carbohydrate sulfotransferase 12. This enzyme plays a crucial role in the sulfation of carbohydrates, which is a process involved in various biological functions. The CHST12 gene is located on chromosome 7 and is found in humans and other mammals.

Structure

The CHST12 gene spans approximately 10 kilobases and consists of 8 exons. It is transcribed into a messenger RNA (mRNA) molecule, which is then translated into the CHST12 enzyme. The enzyme is composed of 389 amino acids and has a molecular weight of around 44 kilodaltons.

Function

The CHST12 enzyme is primarily involved in the sulfation of carbohydrates. Sulfation is the process of adding sulfate groups to carbohydrates, which can modify their structure and function. This modification is crucial for various biological processes, including cell adhesion, signaling, and development.

Role in Disease

Mutations in the CHST12 gene have been associated with certain diseases and disorders. For example, a study found that mutations in CHST12 are linked to a rare genetic disorder called Ehlers-Danlos syndrome (EDS). EDS is a group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The exact mechanism by which CHST12 mutations contribute to EDS is still under investigation.

See Also

• Carbohydrate sulfotransferase
• Ehlers-Danlos syndrome
• Chromosome 7