CYP24A1 Chromosome 20
Cytochrome P450 family 24 subfamily A member 1
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What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 24
Locus Type
gene with protein product
Location
20q13.2
Ensembl
ENSG00000019186
Associated Conditions (8)
Hypercalcemia
infantile
1
Inborn genetic diseases
CYP24A1-related disorder
Ovarian serous cystadenocarcinoma
Muscle spasm
Renal tubulopathies
Key Variants
RS114930663
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS117685582
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS139655790
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS142282494
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146404747
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS149806586
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS1568976122
Conflicting classifications of pathogenicity
Health Risk
RS16999131
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS201820243
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS35051736
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS35873579
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
RS372360343
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 1
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114368325 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS1170841548 | Health Risk | Pathogenic/Likely pathogenic | Renal tubulopathies, Renal tubulopathies |
| RS143934667 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS202070065 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS387907322 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS387907324 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS6068812 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS751526033 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS774432244 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS777011420 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |
| RS777947329 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 1 |