CYP24A1
Cytochrome P450 Family 24 Subfamily A Member 1
Gene Information Card
| Symbol | CYP24A1 |
|---|---|
| Full Name | Cytochrome P450 Family 24 Subfamily A Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.2 |
| NCBI Gene ID | 1591 ncbi.nlm.nih.gov/gene/1591 |
| Ensembl ID | ENSG00000019186 |
| UniProt ID | Q07973 |
| OMIM ID | 126065 |
| HGNC ID | 2602 |
| Aliases | CP24, CYP24, P450-CC24 |
Description
CYP24A1 encodes a mitochondrial cytochrome P450 enzyme that catalyzes the 24-hydroxylation of 1,25-dihydroxyvitamin D3, the active form of vitamin D, initiating its degradation. This enzyme is critical for maintaining calcium homeostasis by regulating vitamin D levels. Loss-of-function mutations lead to elevated 1,25-dihydroxyvitamin D3, causing hypercalcemia and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Infantile Hypercalcemia | Loss-of-function mutations reduce vitamin D catabolism, leading to elevated active vitamin D and hypercalcemia | ClinVar, OMIM |
| Hypercalcemia, Adult-Onset | Similar mechanism as infantile form, presenting later in life with nephrolithiasis and hypercalciuria | ClinVar, OMIM |
| Nephrolithiasis | Increased urinary calcium excretion due to hypercalcemia from impaired vitamin D degradation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.1 | Medium |
| Liver | 3.2 | Low |
| Small Intestine | 2.8 | Low |
| Lung | 1.5 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in transfected cells |
| HepG2 | 4.1 | Moderate expression |
| Caco-2 | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.428G>A (p.Arg143Gln) | Missense | Rare | Loss of enzymatic activity |
| c.1226T>C (p.Leu409Ser) | Missense | Rare | Reduced catalytic efficiency |
| c.1186C>T (p.Arg396Trp) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations reduce or abolish 24-hydroxylase activity, leading to vitamin D accumulation.
Gain of Function (GOF)
Not reported in CYP24A1.
Dominant Negative (DN)
Not reported in CYP24A1.
View complete mutation data：
Gene Ontology (GO)
| • vitamin D 24-hydroxylase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • mitochondrion |
Pathways
• Vitamin D metabolism
• Calcium signaling pathway
Protein Summary
CYP24A1 is a 514-amino acid mitochondrial cytochrome P450 enzyme that hydroxylates 1,25-dihydroxyvitamin D3 at the C24 position, initiating its degradation. It is primarily expressed in kidney and plays a key role in calcium homeostasis. Mutations cause hypercalcemic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP24A1 Knockout HEK293 Cell Line | EDJ-KQ3491 | Human | 1591 | Details Get a Quote |
| CYP24A1 Knockout A-549 Cell Line | EDJ-KQ25281 | Human | 1591 | Details Get a Quote |
| CYP24A1 Knockout HCT 116 Cell Line | EDJ-KQ25282 | Human | 1591 | Details Get a Quote |
| CYP24A1 Knockout HeLa Cell Line | EDJ-KQ25283 | Human | 1591 | Details Get a Quote |
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