DHCR7 : 7-dehydrocholesterol reductase

The DHCR7 Gene: A Key Player in Cholesterol Synthesis

Description

The DHCR7 gene holds the blueprint for producing an enzyme called 7-dehydrocholesterol reductase, the gatekeeper of the final step in cholesterol production. This enzyme transforms 7-dehydrocholesterol into cholesterol, an essential molecule for various bodily functions.

Associated Diseases

Mutations in the DHCR7 gene can disrupt cholesterol synthesis, leading to a condition called Smith-Lemli-Opitz syndrome (SLOS). This rare genetic disorder affects multiple organ systems and can cause intellectual disabilities, physical abnormalities, and behavioral problems.

Did you Know ?

About 1 in 50,000 to 1 in 100,000 newborns are affected by SLOS, making it one of the most common inborn errors of metabolism.