CYP24A1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CYP24A1 (HGNC:2602) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cytochrome P450 family 24 subfamily A member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CYP24
- Alias symbols
- CP24, P450-CC24, lncBCAS1-4_1
- %HI
- 56.17(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.54(Read more about gnomAD LOEUF score)
- Cytoband
- 20q13.2
- Genomic Coordinates
-
GRCh37/hg19: chr20:52769985-52790525 NCBI Ensembl UCSC GRCh38/hg38: chr20:54143538-54173986 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000782.5 ENST00000216862.8 (Read more about MANE Select)
- Function
- A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:24893882, PubMed:15574355, PubMed:8679605, PubMed:11012668, PubMed:16617161, PubMed:29461981). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidati... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20221
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hypercalcemia, infantile, 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000020.10)
(NC_000020.11)