Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CYP27A1 Gene

Aliases for CYP27A1 Gene

  • Cytochrome P450 Family 27 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XXVIIA (Steroid 27-Hydroxylase, Cerebrotendinous Xanthomatosis), Polypeptide 1 2 3
  • Cytochrome P450, Family 27, Subfamily A, Polypeptide 1 2 3
  • Vitamin D(3) 25-Hydroxylase 3 4
  • Cytochrome P-450C27/25 3 4
  • Sterol 27-Hydroxylase 3 4
  • Cytochrome P450 27 3 4
  • CYP27 3 4
  • 5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 26-Hydroxylase 3
  • 5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 27-Hydroxylase 3
  • 5-Beta-Cholestane-3-Alpha,7-Alpha,12-Alpha-Triol 27-Hydroxylase 4
  • Sterol 26-Hydroxylase, Mitochondrial 3
  • Cholestanetriol 26-Monooxygenase 3
  • Cerebrotendinous Xanthomatosis 2
  • EC 4
  • CP27 3
  • CTX 3

External Ids for CYP27A1 Gene

Previous HGNC Symbols for CYP27A1 Gene

  • CYP27

Previous GeneCards Identifiers for CYP27A1 Gene

  • GC02P217662
  • GC02P218367
  • GC02P219610
  • GC02P219849
  • GC02P219472
  • GC02P219354
  • GC02P211499
  • GC02P219646

Summaries for CYP27A1 Gene

Entrez Gene Summary for CYP27A1 Gene

  • 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 oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP27A1 Gene

CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP27A1 include Cerebrotendinous Xanthomatosis and Xanthomatosis. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP27B1.

UniProtKB/Swiss-Prot for CYP27A1 Gene

  • Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.

Gene Wiki entry for CYP27A1 Gene

Additional gene information for CYP27A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP27A1 Gene

Genomics for CYP27A1 Gene

GeneHancer (GH) Regulatory Elements for CYP27A1 Gene

Promoters and enhancers for CYP27A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J218781 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 677.7 +1.9 1864 6 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 FOS RXRA CYP27A1 PLCD4 TTLL4 PRKAG3 PNKD SLC11A1 RNF25 TMBIM1 ENSG00000272555
GH02J218780 Enhancer 0.4 ENCODE 650.7 -1.5 -1513 0.1 FOXA2 CEBPG CYP27A1 GC02P218766
GH02J218730 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.8 -49.1 -49059 4.6 FOXA2 MLX ARNT ARID4B SIN3A YY1 SLC30A9 FOS SP5 NFYC SLC11A1 BCS1L CYP27A1 PLCD4 NHEJ1 ANKZF1 SLC23A3 AAMP GMPPA RNF25
GH02J218393 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -380.7 -380742 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 CTDSP1 ENSG00000273361 GC02P218403 MIR26B CNOT9 AAMP USP37 RNF25 NHEJ1 ZNF142
GH02J218743 Enhancer 1.4 Ensembl ENCODE dbSUPER 20 -36.7 -36665 3.6 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 IRF4 ATF7 RUNX3 NFKBIZ CYP27A1 PLCD4 TTLL4 PRKAG3 STK36 RNF25 GC02P218766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP27A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP27A1 gene promoter:
  • HNF-4alpha1
  • COUP-TF1
  • COUP
  • HNF-4alpha2
  • p53
  • GATA-1
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for CYP27A1 Gene

Genomic Locations for CYP27A1 Gene
33,545 bases
Plus strand
33,545 bases
Plus strand

Genomic View for CYP27A1 Gene

Genes around CYP27A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP27A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP27A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP27A1 Gene

Proteins for CYP27A1 Gene

  • Protein details for CYP27A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sterol 26-hydroxylase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K303
    • Q6LDB4
    • Q86YQ6

    Protein attributes for CYP27A1 Gene

    531 amino acids
    Molecular mass:
    60235 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP27A1 Gene

neXtProt entry for CYP27A1 Gene

Post-translational modifications for CYP27A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP27A1 Gene

No data available for DME Specific Peptides for CYP27A1 Gene

Domains & Families for CYP27A1 Gene

Gene Families for CYP27A1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CYP27A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP27A1: view

Function for CYP27A1 Gene

Molecular function for CYP27A1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + 6 reduced adrenodoxin + 6 H(+) + 3 O(2) = (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oate + 6 oxidized adrenodoxin + 4 H(2)O.
GENATLAS Biochemistry:
cytochrome p450,family XXVII A polypeptide 1,vitamin D3 25-hydroxylase,mitochondrial,expressed in liver,also mediating 27-hydroxylation of cholestane triol,a cholesterol metabolite,involved in calcium homeostasis,catalyzing the initial oxidation of sterol intermediates in hepatic bile synthesis

Enzyme Numbers (IUBMB) for CYP27A1 Gene

Phenotypes From GWAS Catalog for CYP27A1 Gene

Gene Ontology (GO) - Molecular Function for CYP27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with CYP27A1: view
genes like me logo Genes that share phenotypes with CYP27A1: view

Human Phenotype Ontology for CYP27A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP27A1 Gene

MGI Knock Outs for CYP27A1:

Animal Model Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CYP27A1 Gene

Localization for CYP27A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP27A1 Gene

Mitochondrion membrane.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP27A1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYP27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with CYP27A1: view

Pathways & Interactions for CYP27A1 Gene

genes like me logo Genes that share pathways with CYP27A1: view

UniProtKB/Swiss-Prot Q02318-CP27A_HUMAN

  • Pathway: Hormone biosynthesis; cholecalciferol biosynthesis.

Gene Ontology (GO) - Biological Process for CYP27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0016125 sterol metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYP27A1: view

No data available for SIGNOR curated interactions for CYP27A1 Gene

Drugs & Compounds for CYP27A1 Gene

(19) Drugs for CYP27A1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ergocalciferol Approved Nutra Enzyme, substrate 1362
Vitamin D3 Approved Nutra Enzyme, substrate Fat-soluble secosteroids 922,916
chenodeoxycholic acid Approved Pharma Antagonist, Full agonist, Agonist, Enzyme, substrate 35
cholic acid Approved Pharma Full agonist, Agonist 0
Doxercalciferol Approved Pharma Enzyme, substrate, activator Vitamin D receptor activator, Vitamin D2 analog, VDR agonist 0

(33) Additional Compounds for CYP27A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3alpha,5beta,7alpha,12alpha)-Cholestane-3,7,12,26-tetrol
  • 3alpha,7alpha,12alpha,26-Tetrahydroxy-5beta-cholestane
  • 5beta-Cholestane 3alpha,7alpha,12alpha,27-tetrol
  • 5beta-Cholestane-3alpha,7alpha,12alpha,26-tetraol
  • Cholestane-3,7,12,26(27)-tetrol
3 alpha,7 alpha,26-Trihydroxy-5beta-cholestane
  • (25R)-5beta-Cholestane-3alpha,7alpha,26-triol
  • (3alpha,5beta,7alpha)-Cholestane-3,7,26-triol
  • 3alpha,7alpha,26-Trihydroxy-5beta-cholestane
  • 5 beta-Cholestane-3 alpha,7 alpha,26-triol
  • 5beta-Cholestan-3alpha,7alpha,26-triol
3 beta-Hydroxy-5-cholestenoate
  • (3beta)-3-Hydroxy-cholest-5-en-26-Oate
  • (3beta)-3-Hydroxy-cholest-5-en-26-Oic acid
  • 3 beta-Hydroxycholest-5-en-27-Oate
  • 3 beta-Hydroxycholest-5-en-27-Oic acid
  • 3-HCOA
  • (3alpha,5beta,7alpha,12alpha)-3,7,12-Trihydroxycholestan-26-al
  • 3,7,12-Trihydroxycholestan-26-al
  • (3a,5b,7a,12a)-3,7,12-Trihydroxycholestan-26-al
  • (3α,5β,7α,12α)-3,7,12-trihydroxycholestan-26-al
  • (6R)-2-Methyl-6-[(3R,5S,7R,8R,9S,10S,12S,13R,14S,17R)-3,7,12-trihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]heptanal
  • 3alpha,7alpha-Dihydroxy-5beta-cholestan-27-al
  • 5beta-Cholestan-27-al-3alpha,7alpha-diol
  • 5beta-Cholestane-3alpha,7alpha-diol-27-al
genes like me logo Genes that share compounds with CYP27A1: view

Transcripts for CYP27A1 Gene

mRNA/cDNA for CYP27A1 Gene

Unigene Clusters for CYP27A1 Gene

Cytochrome P450, family 27, subfamily A, polypeptide 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP27A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5: - -

Relevant External Links for CYP27A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP27A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP27A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP27A1 Gene

This gene is overexpressed in Liver (x12.5).

Protein differential expression in normal tissues from HIPED for CYP27A1 Gene

This gene is overexpressed in Liver (17.5) and Urine (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYP27A1 Gene

Protein tissue co-expression partners for CYP27A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP27A1 Gene:


SOURCE GeneReport for Unigene cluster for CYP27A1 Gene:


Evidence on tissue expression from TISSUES for CYP27A1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Blood(4.6)
  • Intestine(4.5)
  • Kidney(4.5)
  • Lung(2.7)
  • Skin(2.5)
  • Bone(2.3)
  • Adrenal gland(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP27A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CYP27A1: view

No data available for mRNA Expression by UniProt/SwissProt for CYP27A1 Gene

Orthologs for CYP27A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP27A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYP27A1 34
  • 99 (a)
LOC459951 33
  • 98.93 (n)
(Canis familiaris)
Mammalia CYP27A1 34 33
  • 84.6 (n)
(Bos Taurus)
Mammalia CYP27A1 34 33
  • 82.7 (n)
(Mus musculus)
Mammalia Cyp27a1 16 34 33
  • 79.21 (n)
(Rattus norvegicus)
Mammalia Cyp27a1 33
  • 79.02 (n)
(Monodelphis domestica)
Mammalia CYP27A1 34
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia CYP27A1 34
  • 53 (a)
(Gallus gallus)
Aves CYP27A1 34 33
  • 65.91 (n)
(Anolis carolinensis)
Reptilia CYP27A1 34
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496109 33
  • 58.8 (n)
Str.11938 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2428 33
(Danio rerio)
Actinopterygii zgc:136333 33
  • 57.45 (n)
cyp27a1.2 34
  • 45 (a)
CYP27A1 (6 of 6) 34
  • 45 (a)
cyp27a1.4 34
  • 45 (a)
cyp27a7 34
  • 44 (a)
CYP27A1 (3 of 6) 34
  • 44 (a)
CYP27A1 (5 of 6) 34
  • 38 (a)
wufb58e08 33
fruit fly
(Drosophila melanogaster)
Insecta Cyp49a1 35 33
  • 46.8 (n)
Cyp12a5 35
  • 27 (a)
Cyp12b2 35
  • 27 (a)
Cyp12e1 35
  • 26 (a)
Cyp12a4 35
  • 26 (a)
Cyp12c1 35
  • 25 (a)
Cyp301a1 35
  • 25 (a)
sad 34
  • 24 (a)
Cyp12d1 35
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005774 33
  • 46.24 (n)
Species where no ortholog for CYP27A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP27A1 Gene

Gene Tree for CYP27A1 (if available)
Gene Tree for CYP27A1 (if available)
Evolutionary constrained regions (ECRs) for CYP27A1: view image

Paralogs for CYP27A1 Gene

(4) SIMAP similar genes for CYP27A1 Gene using alignment to 4 proteins:

  • C9J1K5_HUMAN
  • F8WD90_HUMAN
  • Q96T86_HUMAN
genes like me logo Genes that share paralogs with CYP27A1: view

Variants for CYP27A1 Gene

Sequence variations from dbSNP and Humsavar for CYP27A1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1031487403 uncertain-significance, Cholestanol storage disease 218,815,225(+) G/A/C/T 3_prime_UTR_variant
rs1051087 benign, Cholestanol storage disease 218,809,687(+) C/A coding_sequence_variant, intron_variant, synonymous_variant
rs1057519469 likely-pathogenic, Cholestanol storage disease 218,812,926(+) A/T coding_sequence_variant, stop_gained
rs121908096 pathogenic, Cholestanol storage disease, not provided, Cerebrotendinous xanthomatosis (CTX) [MIM:213700], Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,814,186(+) C/A/T coding_sequence_variant, missense_variant
rs121908097 pathogenic, Cholestanol storage disease, Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,814,702(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP27A1 Gene

Variant ID Type Subtype PubMed ID
esv3594349 CNV loss 21293372
nsv518750 CNV loss 19592680

Variation tolerance for CYP27A1 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.52; 55.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP27A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP27A1 Gene

Disorders for CYP27A1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CYP27A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebrotendinous xanthomatosis
  • ctx
  • xanthomatosis, susceptibility to
lipid storage disease
  • inborn lipid storage disorder
prostate leiomyosarcoma
  • leiomyosarcoma of the prostate
prostate sarcoma
  • sarcoma of the prostate
- elite association - COSMIC cancer census association via MalaCards


  • Cerebrotendinous xanthomatosis (CTX) [MIM:213700]: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. {ECO:0000269 PubMed:12000359, ECO:0000269 PubMed:2019602, ECO:0000269 PubMed:7915755, ECO:0000269 PubMed:9186905, ECO:0000269 PubMed:9790667}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CYP27A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP27A1: view

No data available for Genatlas for CYP27A1 Gene

Publications for CYP27A1 Gene

  1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. (PMID: 2019602) Cali JJ … Russell DW (The Journal of biological chemistry 1991) 2 3 4 22 58
  2. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J … Prostate, Lung, Colorectal and Ovarian Trial Project Team (Carcinogenesis 2009) 3 22 44 58
  3. Asthma and genes encoding components of the vitamin D pathway. (PMID: 19852851) Bossé Y … Laprise C (Respiratory research 2009) 3 22 44 58
  4. A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. (PMID: 9790667) Chen W … Seyama Y (Biochemistry 1998) 3 4 22 58
  5. Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. (PMID: 9186905) Chen W … Seyama Y (Journal of lipid research 1997) 3 4 22 58

Products for CYP27A1 Gene

Sources for CYP27A1 Gene

Loading form....