ADSSL1

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Description

The ADSSL1 gene provides instructions for making an enzyme called delta-4-steroid 5 alpha-reductase. This enzyme plays a crucial role in the synthesis of steroid hormones, including testosterone and cortisol. The enzyme catalyzes the conversion of a precursor molecule, delta-4-androstenedione, into a key intermediate for the production of testosterone and other important steroids. Mutations in ADSSL1 can disrupt this process, leading to a range of health issues.

Associated Diseases

• 46,XY Disorders of Sex Development (DSD)
• Isolated Hypogonadotropic Hypogonadism (IHH)
• Cortisol Deficiency

Did you know?

The ADSSL1 gene is located on chromosome 16 and has been linked to the development of specific types of male infertility.