CYP27B1

gene

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July 20, 2026

Quick Summary

The gene CYP27B1 is involved in the metabolism of vitamin D. Vitamin D is crucial for calcium absorption and bone health. A deficiency in vitamin D can lead to rickets in children, characterized by soft bones and abnormal growth, and osteomalacia in adults.12

Vitamin D is produced in the skin through exposure to sunlight or absorbed from the diet. It undergoes conversion in the liver and kidneys to its active form, calcitriol. Calcitriol then helps the body absorb calcium and phosphate, which are essential for bone rigidity.13

Inherited defects in genes like CYP27B1 can disrupt vitamin D metabolism, leading to rickets-type disorders even with adequate vitamin D intake.1

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…in a gene known as CYP27B1 that result in reduced vitamin D levels in the body. The inheritance of one copy (from one parent) of the mutated gene is sufficient to produce MS (inheritance of two copies, one from each parent, causes vitamin D-dependent rickets I, or pseudo-vitamin D-deficiency rickets).…
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…in a gene known as CYP27B1 that result in reduced vitamin D levels in the body. The inheritance of one copy (from one parent) of the mutated gene is sufficient to produce MS (inheritance of two copies, one from each parent, causes vitamin D-dependent rickets I, or pseudo-vitamin D-deficiency rickets).…
Read More