Insulin gene

Insulin gene is a gene that encodes the hormone insulin, which is crucial for the regulation of carbohydrate and fat metabolism in the body. The insulin gene is located on chromosome 11 in humans.

Structure

The human insulin gene is approximately 1.5 kilobases long, and is composed of three exons and two introns. The gene is transcribed into a messenger RNA (mRNA) molecule, which is then translated into the insulin protein.

Function

The insulin gene is expressed primarily in the beta cells of the pancreas, where it is responsible for the production of insulin. Insulin is a hormone that regulates the amount of glucose in the blood by promoting its uptake into cells, where it is used for energy production or stored as glycogen.

Regulation

The expression of the insulin gene is tightly regulated to ensure that insulin is produced in response to changes in blood glucose levels. This regulation is achieved through the action of various transcription factors that bind to the promoter region of the insulin gene.

Clinical significance

Mutations in the insulin gene can lead to various forms of diabetes, including Maturity onset diabetes of the young (MODY) and Neonatal diabetes mellitus (NDM). In addition, variations in the insulin gene have been associated with an increased risk of type 2 diabetes.

See also

• Insulin
• Diabetes mellitus
• Gene expression
• Transcription factor