CYP27A1

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CYP27A1 (HGNC:2605) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome P450 family 27 subfamily A member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CYP27
Alias symbols
CTX, CP27
%HI
64.32(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.38(Read more about gnomAD LOEUF score)
Cytoband
2q35
Genomic Coordinates
GRCh37/hg19: chr2:219646870-219680016 NCBI Ensembl UCSC
GRCh38/hg38: chr2:218782147-218815293 NCBI Ensembl UCSC
MANE Select Transcript
NM_000784.4 ENST00000258415.9 (Read more about MANE Select)
Function
Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:9660774, PubMed:12077124, PubMed:21411718, PubMed:28190002). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutra... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13070
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:
  • cerebrotendinous xanthomatosis Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)