CYP11B1 : cytochrome P450 family 11 subfamily B member 1

The CYP11B1 Gene: A Molecular Gatekeeper of Hormone Production

Description

The CYP11B1 gene holds the blueprint for an enzyme called 11-beta-hydroxylase. This enzyme plays a crucial role in producing essential hormones produced by the adrenal glands, two small organs perched atop the kidneys. As part of the cytochrome P450 enzyme family, 11-beta-hydroxylase orchestrates the intricate chemical reactions that shape various biological molecules within our cells.

Associated Diseases

Defects in the CYP11B1 gene can lead to congenital adrenal hyperplasia (CAH), a group of rare disorders that affect the adrenal glands‘ ability to produce adequate levels of cortisol and aldosterone. These hormones regulate essential bodily functions, and their deficiency can lead to various symptoms, including:

• High blood pressure
• Fatigue
• Muscle weakness
• Ambiguous genitalia in newborns
• Dehydration

Did you Know ?

An estimated 1 in 10,000 to 1 in 20,000 people worldwide have CAH. This underscores the significance of CYP11B1 in maintaining normal hormone production and overall health.