CYP24A1 Gene

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This entry is adapted from https://medlineplus.gov/genetics/gene/cyp24a1

Cytochrome P450 Family 24 Subfamily A Member 1

genes

Information

Subjects: Genetics & Heredity

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Vivi Li

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

1. Normal Function

The CYP24A1 gene provides instructions for making an enzyme called 24-hydroxylase. This enzyme helps control the amount of active vitamin D available in the body. When active, vitamin D is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several processes in addition to bone and tooth formation.

The 24-hydroxylase enzyme breaks down the active form of vitamin D, called 1,25-dihydroxyvitamin D₃ or calcitriol, to an inactive form when the vitamin is no longer needed. The enzyme also breaks down 25-hydroxyvitamin D (also known as calcidiol), which is the form of vitamin D that is stored in the body.

2. Health Conditions Related to Genetic Changes

2.1 Idiopathic Infantile Hypercalcemia

More than 20 mutations in the CYP24A1 gene have been found to cause a type of idiopathic infantile hypercalcemia called infantile hypercalcemia 1, which is characterized by high levels of calcium in the blood (hypercalcemia) and urine (hypercalciuria) and deposits of calcium in the kidneys (nephrocalcinosis). The hypercalcemia typically causes vomiting, poor feeding, and an inability to grow and gain weight at the expected rate (failure to thrive) in infancy, although some affected individuals do not develop signs and symptoms of the condition until adulthood. Features in affected adults, whether they had symptoms in infancy or not, typically include hypercalciuria, nephrocalcinosis, and kidney stones (nephrolithiasis), although they may not cause any obvious health problems.

The CYP24A1 gene mutations that cause infantile hypercalcemia 1 reduce or eliminate the activity of the 24-hydroxylase enzyme. A shortage of this enzyme's function impairs the breakdown of calcitriol. The resulting excess of calcitriol increases calcium absorption into the bloodstream, causing hypercalcemia. Dysregulation of calcium absorption in the kidneys leads to hypercalciuria, nephrocalcinosis, and nephrolithiasis.

3. Other Names for This Gene

1,25-@dihydroxyvitamin D3 24-hydroxylase
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor
24-OHase
CP24
CYP24
cytochrome P450 24A1
cytochrome P450, family 24, subfamily A, polypeptide 1
cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)
cytochrome P450-CC24
exo-mitochondrial protein
HCAI
HCINF1
P450-CC24
vitamin D 24-hydroxylase
vitamin D(3) 24-hydroxylase

References

Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ.Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, causelong-standing hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol. 2013Aug;190(2):552-7. doi: 10.1016/j.juro.2013.02.3188.
Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC,Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N,Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler ML. CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. J ClinEndocrinol Metab. 2015 Oct;100(10):E1343-52. doi: 10.1210/jc.2014-4387.
Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R,Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, GahlWA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause ofNephrolithiasis. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi:10.2215/CJN.05360512.
Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D,Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M,Schlingmann KP, Litwin M. Biallelic mutations in CYP24A1 or SLC34A1 as a cause ofinfantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity:molecular study of 11 historical IIH cases. J Appl Genet. 2017 Aug;58(3):349-353.doi: 10.1007/s13353-017-0397-2.
Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J,Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG,Bindels RJ, Prosser DE, Jones G, Konrad M. Mutations in CYP24A1 and idiopathicinfantile hypercalcemia. N Engl J Med. 2011 Aug 4;365(5):410-21. doi:10.1056/NEJMoa1103864.

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