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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 1.14.15.15 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 Metabolism and Cytochrome P450 - arranged by substrate type. 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

Regulatory Elements for CYP27A1 Gene

Enhancers for CYP27A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H218781 1.6 FANTOM5 Ensembl ENCODE 27.7 +1.9 1865 5 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 FOS SP5 MXD4 CYP27A1 PLCD4 TTLL4 PRKAG3 PNKD SLC11A1 RNF25 TMBIM1 ENSG00000272555
GH02H218730 2 FANTOM5 Ensembl ENCODE dbSUPER 19.8 -49.1 -49060 4 FOXA2 MLX ARNT ARID4B SIN3A YY1 SLC30A9 FOS SP5 MXD4 SLC11A1 BCS1L CYP27A1 PLCD4 NHEJ1 ANKZF1 SLC23A3 AAMP GMPPA RNF25
GH02H218743 1.5 Ensembl ENCODE dbSUPER 20 -36.7 -36666 3 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 ATF7 RUNX3 NCOA1 JUNB CYP27A1 PLCD4 TTLL4 PRKAG3 RNF25 STK36 GC02P218766
GH02H218393 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -380.7 -380743 14 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 CNOT9 AAMP USP37 STK36 ANKZF1 TNS1 BCS1L ENSG00000273466 NHEJ1 TMBIM1
GH02H218805 1.5 Ensembl ENCODE dbSUPER 13.9 +24.5 24537 2 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 YY1 ATF7 RUNX3 ZHX2 TTLL4 CYP27A1 ZNF142 ENSG00000272555
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP27A1 on UCSC Golden Path with GeneCards custom track

Promoters for CYP27A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000130453 451 1600 TBP FOXA2 MLX ZFP64 ARID4B DMAP1 ZSCAN9 RAD21 RARA YY1

Genomic Location for CYP27A1 Gene

Chromosome:
2
Start:
218,781,749 bp from pter
End:
218,815,293 bp from pter
Size:
33,545 bases
Orientation:
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:
    Q02318-CP27A_HUMAN
    Recommended name:
    Sterol 26-hydroxylase, mitochondrial
    Protein Accession:
    Q02318
    Secondary Accessions:
    • A8K303
    • Q6LDB4
    • Q86YQ6

    Protein attributes for CYP27A1 Gene

    Size:
    531 amino acids
    Molecular mass:
    60235 Da
    Cofactor:
    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

Antibody Products

No data available for DME Specific Peptides for CYP27A1 Gene

Domains & Families for CYP27A1 Gene

Gene Families for CYP27A1 Gene

HGNC:
IUPHAR :
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

Q02318

UniProtKB/Swiss-Prot:

CP27A_HUMAN :
  • Belongs to the cytochrome P450 family.
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

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
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.
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.

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYP27A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
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 IDA,IEA --
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
Cholecalciferol Approved Nutra Enzyme, substrate Fat-soluble secosteroids 894,888
Ergocalciferol Approved Nutra Enzyme, substrate 1313
chenodeoxycholic acid Approved Pharma Antagonist, Enzyme, substrate 35
cholic acid Approved Pharma Full agonist, Agonist 0
Doxercalciferol Approved Pharma Enzyme, substrate, activator Vitamin D receptor activator 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
27-Deoxy-5b-cyprinol
  • (25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol
  • 3a,7a,12a,26-Tetrahydroxy-5b-cholestane
  • 5-b-Cholestane-3a-7-tetraol
  • 5-beta-Cholestane-3-alpha-7-alpha-12-alpha-26-tetraol
  • 5-beta-Cholestane-3a-7-tetraol
862-53-3
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
15313-69-6
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
6561-58-6
3a,7a,12a-Trihydroxy-5b-cholestan-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
  • 3,7,12-Trihydroxycholestan-26-al
  • 3-alpha-7-alpha-12-alpha-Trihydroxy-5-beta-cholestan-26-al
  • 3alpha,7-alpha,12alpha-Trihydroxy-5beta-cholestan-26-al
3836-01-9
3a,7a,12a-Trihydroxy-5b-cholestanoic acid
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oate
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oic acid
  • 3-alpha,7-alpha,12-alpha-Trihydroxy-5-beta-cholestanate
  • 3a,7a,12a-Trihydroxy-5b-cholestanoate
  • 3a,7a,12a-Trihydroxy-5b-cholestanoic acid
33964-75-9
genes like me logo Genes that share compounds with CYP27A1: view

Transcripts for CYP27A1 Gene

Unigene Clusters for CYP27A1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYP27A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
CYP27A1
ECgene alternative splicing isoforms for
CYP27A1

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, PaxDb, MaxQB, and MOPED for CYP27A1 Gene



Protein tissue co-expression partners for CYP27A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP27A1 Gene:

CYP27A1

SOURCE GeneReport for Unigene cluster for CYP27A1 Gene:

Hs.516700

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(2.2)
  • 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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • 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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CYP27A1 34
  • 99 (a)
OneToOne
LOC459951 33
  • 98.93 (n)
dog
(Canis familiaris)
Mammalia CYP27A1 33 34
  • 84.6 (n)
cow
(Bos Taurus)
Mammalia CYP27A1 33 34
  • 82.7 (n)
mouse
(Mus musculus)
Mammalia Cyp27a1 33 16 34
  • 79.21 (n)
rat
(Rattus norvegicus)
Mammalia Cyp27a1 33
  • 79.02 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP27A1 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP27A1 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP27A1 33 34
  • 65.91 (n)
lizard
(Anolis carolinensis)
Reptilia CYP27A1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496109 33
  • 58.8 (n)
Str.11938 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2428 33
zebrafish
(Danio rerio)
Actinopterygii zgc:136333 33
  • 57.45 (n)
CYP27A1 (6 of 6) 34
  • 45 (a)
OneToMany
cyp27a1.2 34
  • 45 (a)
OneToMany
cyp27a1.4 34
  • 45 (a)
OneToMany
CYP27A1 (3 of 6) 34
  • 44 (a)
OneToMany
cyp27a7 34
  • 44 (a)
OneToMany
CYP27A1 (5 of 6) 34
  • 38 (a)
OneToMany
wufb58e08 33
fruit fly
(Drosophila melanogaster)
Insecta Cyp49a1 35 33
  • 46.8 (n)
Cyp12a5 35
  • 27 (a)
Cyp12b2 35
  • 27 (a)
Cyp12a4 35
  • 26 (a)
Cyp12e1 35
  • 26 (a)
Cyp12c1 35
  • 25 (a)
Cyp301a1 35
  • 25 (a)
Cyp12d1 35
  • 24 (a)
sad 34
  • 24 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CYP27A1 (if available)
TreeFam:
Gene Tree for CYP27A1 (if available)

Paralogs for CYP27A1 Gene

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

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 Sequence Context AA Info Type
rs121908096 Pathogenic, Cerebrotendinous xanthomatosis (CTX) [MIM:213700], Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,814,186(+) CTCTG(A/C/T)GGTAG reference, missense
rs121908097 Pathogenic, Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,814,702(+) GGTCC(A/G)GGCCT reference, missense
rs121908098 Pathogenic, Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,814,701(+) GGGTC(C/T)GGGCC reference, missense
rs121908099 Pathogenic, Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,814,409(+) CTCCC(A/G)GATCA reference, missense
rs72551313 Pathogenic, Cerebrotendinous xanthomatosis (CTX) [MIM:213700] 218,809,755(+) CTATG(A/G)GCCGT intron-variant, reference, missense

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)

Relevant External Links for CYP27A1 Gene

Human Gene Mutation Database (HGMD)
CYP27A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP27A1

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

Disorders for CYP27A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cerebrotendinous xanthomatosis
  • cholestanol storage disease
xanthomatosis
  • xanthelasmatosis
lipid storage disease
  • inborn lipid storage disorder
prostate leiomyosarcoma
  • leiomyosarcoma of the prostate
vitamin d-dependent rickets, type i
  • vitamin d-dependent rickets type i
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP27A_HUMAN
  • 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.

Relevant External Links for CYP27A1

Genetic Association Database (GAD)
CYP27A1
Human Genome Epidemiology (HuGE) Navigator
CYP27A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP27A1
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 60
  2. Asthma and genes encoding components of the vitamin D pathway. (PMID: 19852851) Bossé Y … Laprise C (Respiratory research 2009) 3 22 45 60
  3. 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 45 60
  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 60
  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 60

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