What gene location is associated with Smith-Lemli-Opitz Syndrome?

Smith-Lemli-Opitz Syndrome is linked to a mutation in the DHCR7 gene, which is located on chromosome 11. This genetic disorder is characterized by abnormalities in cholesterol synthesis due to the absence or dysfunction of the enzyme 7-dehydrocholesterol reductase, which plays a crucial role in this metabolic pathway. The defective gene leads to various developmental issues and physical malformations, characteristic of the syndrome. Understanding the association between the syndrome and its chromosomal location is vital for diagnosis, genetic counseling, and exploring potential treatment options.