Product Details

Uniprot No.

Target Names

Alternative Names

Sterol 26-hydroxylase, mitochondrial (EC 1.14.15.15) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase) (Cytochrome P-450C27/25) (Cytochrome P450 27) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase), CYP27A1, CYP27

Species Reactivity

Human, Mouse, Rat

Immunogen

A synthesized peptide from human CYP27A1 protein

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Clonality

Monoclonal

Isotype

Rabbit IgG

Clone No.

5E8

Purification Method

Affinity-chromatography

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Rabbit IgG in 10mM phosphate buffered saline , pH 7.4, 150mM sodium chloride, 0.05% BSA, 0.02% sodium azide and 50% glycerol.

Form

Liquid

Tested Applications

ELISA, WB, IHC, IF, FC

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:50-1:200
IF	1:50-1:200
FC	1:50-1:200

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
Flow Cytometry (FC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Description

CYP27A1, also known as sterol 27-hydroxylase, is a mitochondrial cytochrome P450 enzyme that plays a central role in bile acid biosynthesis and cholesterol homeostasis. This enzyme catalyzes the 27-hydroxylation of cholesterol intermediates and also functions as vitamin D3 25-hydroxylase, positioning it at the intersection of lipid metabolism and vitamin D activation pathways. Mutations in CYP27A1 are associated with cerebrotendinous xanthomatosis, making this target particularly relevant for researchers investigating metabolic disorders, liver function, and sterol metabolism.

This recombinant rabbit monoclonal antibody, clone 5E8, offers the reproducibility and batch-to-batch consistency that demanding experimental workflows require. Because the antibody sequence is defined and produced recombinantly, you can expect reliable performance across long-term studies without the variability often encountered with traditional hybridoma-derived reagents.

Validation data demonstrates robust performance across multiple platforms. Western blot analysis detects CYP27A1 in HepG2 and A375 human cell lysates, as well as mouse and rat liver tissue, confirming cross-species reactivity with human, mouse, and rat samples. The observed band at approximately 55 kDa runs slightly below the predicted 60 kDa molecular weight, a difference likely attributable to post-translational processing or proteolytic cleavage of the mitochondrial targeting sequence. Immunohistochemistry staining has been validated in human liver cancer and adrenal gland tissues, reflecting the enzyme's known expression pattern in steroidogenic and hepatic tissues. Additional validation in immunofluorescence and flow cytometry using HepG2 cells provides flexibility for subcellular localization studies and quantitative single-cell analyses.

This antibody serves researchers investigating bile acid synthesis, cholesterol metabolism, vitamin D biology, and related metabolic pathways.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

Related Products

Target Background

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. Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways. May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism. Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation. Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium. May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form.

Gene References into Functions

CYP27A1 SNPs are not associated with vitamin D status and multiple sclerosis. PMID: 30088172
Vitamin D supplementation can decrease circulating 27HC of breast cancer patients, likely by CYP27A1 inhibition. This suggests a new and additional modality by which vitamin D can inhibit ER+ breast cancer growth, though a larger study is needed for verification. PMID: 29116467
Whole-exome sequencing assuming recessive inheritance determined his genetic diagnosis to be cerebrotendinous xanthomatosis caused by homozygous mutations (c.410G>A or p.Arg137Gln) in the cytochrome P450 subfamily 27 A1 (CYP27A1) gene PMID: 29269672
Three novel mutations in CYP27A1 were found in cerebrotendinous xanthomatosis patients in Chinese families PMID: 28623566
Increased maternal and fetal cholesterol efflux capacity and placental CYP27A1 expression in preeclampsia PMID: 28396342
Molecular study identified a novel homozygous frameshift mutation in CYP27A1 gene in cerebrotendinous xanthomatosis without cataract PMID: 28229379
Cerebrotendinous xanthomatosis .. is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. Sequencing of CYP27A1 showed a paternally inherited splice mutation, c.446 + 1G>T, and a maternally inherited nonsense mutation, c.808C>T, predicting p.(Arg270*). PMID: 28590052
we demonstrated the rare missense variant of CYP27A1 is associated with atopic dermatitis with elevated levels of total serum IgE. PMID: 27259383
The 32 kb deleted region harbors the CYP2A7 gene and was enriched with enhancer, repressor and insulator sites. The wildtype allele was lost in the polyps of the proband PMID: 28306719
CYP27A1 is a critical cellular cholesterol sensor in prostate cells and that dysregulation of the CYP27A1/27-hydroxycholesterol (27HC) axis contributes significantly to prostate cancer pathogenesis. PMID: 28130224
CYP27A1 catalyzes hydroxylation of beta-sitosterol and ergosterol PMID: 26891232
This study suggests a shared genetic etiology between MS and the characterized single-gene disorders, and highlights cholesterol metabolism and the synthesis of oxysterols as important biological mechanisms for familial MS PMID: 28337550
CYP46A1 is involved in cholestanol removal from the brain and that several factors contribute to the preferential increase in cholestanol in the cerebellum arising from CYP27A1 deficiency. PMID: 28190002
A significant decrease in the expression level of CYP27A1 in female patients could indicate their greater vulnerability to multiple sclerosis than the male patients. PMID: 27792005
A novel mutation (c.1183_1184insT) in several members of a Colombian cerebrotendinous xanthomatosis family is responsible for mental retardation, psychiatric disorders, behavioral changes, and multiple domains cognitive impairment with dysexecutive dominance that progressed to early dementia. PMID: 26844446
CYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis. PMID: 26638999
Analysis of ~60,000 human exomes points to underdiagnosis of cerebrotendinous xanthomatosis due to CYP27A1 mutations. PMID: 26643207
marinobufagenin is derived from bile acids and its biosynthesis is initiated by CYP27A1 enzyme PMID: 26374826
The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D. PMID: 25845986
In a patient with cerebrotendinous xanthomatosis, analysis of the CYP27A1 gene identified compound heterozygosity for p.A335V, a novel mutation. PMID: 25447658
study describes two unrelated Sardinian families sharing the same CYP27A1 mutation, p.Arg479Cys; phenotype of the patients is characteristic of cerebrotendinous xanthomatosis PMID: 24584636
The increased cutaneous CYP27B1 levels in the CKD patients suggest that the loss of renal activity of this enzyme is at least partially compensated for by the skin. PMID: 24029861
Cyp27A1 mutations were identified in early onset CAD pedigree. PMID: 24080357
Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma. PMID: 24732451
Data indicate that inhibition of CYP27A1 activity or knockdown and deletion of the Cyp27a1 gene induced adipocyte differentiation. PMID: 24280213
The expression of CYP27A1 modulates the concentrations of active glucocorticoids in both humans and mice and in vitro. PMID: 24096962
An alternative to elimination of brain cholesterol by the CYP46A1 mechanism is elimination by CYP27A1. PMID: 22185844
This study has identified candidate genes for sporadic Amyotrophic lateral sclerosis( ALS), most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS . PMID: 22509407
study found that adenosine A2A receptor stimulation inhibited foam cell formation by a mechanism dependent on the expression of CYP27A1 PMID: 21258856
Mutations consisting of c.1146_1151deletion-insertion and c.1214G>A substitution of CYP27A1 are identified in patients having cerebrotendinous xanthomatosis. PMID: 21958693
CYP27A1 mutations were found in the proband and a Chinese family with Cerebrotendinous Xanthomatosis PMID: 22018287
Sterol 27-hydroxylase cytochrome P450 27A1 (CYP27A1) is involved in elimination of 7-ketocholesterol from the retinal pigment epithelium. PMID: 21411718
the post-translational modifications identified in CYP27A1 exemplify a general mechanism whereby oxidative stress and inflammation deleteriously affect protein function PMID: 21498512
Four novel mutations located in different exons, in particular in the region of exons 2-5 of the CYP27A1 gene, present as classical cerebrotendinous xanthomatosis. PMID: 20402754
The average P450 concentrations/mg of total tissue protein were 345 fmol of CYP46A1 and 110 fmol of CYP27A1 in the temporal lobe, and 60 fmol of CYP46A1 and 490 fmol of CYP27A1 in the retina. PMID: 21049985
An Arg104Gln mutation in sterol 27-hydroxylase is identified in Japanese patients with cerebrotendinous xanthomatosis; case 1 is a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8. PMID: 20558929
results indicate involvement of the JNK/c-jun pathway in AR-mediated upregulation of CYP27A1. The link to JNK signaling is interesting since inflammatory processes may upregulate CYP27A1 to clear cholesterol from peripheral tissues. PMID: 21134350
down-regulation of genes involved in the cholesterol synthesis pathway results in down-regulation of CYP27A1 which diminishes oxysterol concentrations PMID: 20149624
Overexpression of CYP27A1 in CHOP cells decreased progesterone conversion to 20alpha-DH-progesterone in a dose-dependent manner PMID: 19671838
There needs to be a high level of suspicion of cerebrotendinous xanthomatosis (CXT) for any child with cataracts and developmental delay PMID: 20450308
A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27. PMID: 11903362
Endogenous CYP27A1 is of importance for the normal efflux of both cholesterol and cholestanol from tendons. PMID: 12117727
levels of 27-hydroxycholesterol are not of critical importance for cholesterol homeostasis in mice. PMID: 12119285
A compound heterozygous mutation in CYP27A1 (one missense mutation and one intronic nucleotide change) occurs in a Taiwanese family with cerebrotendinous xanthomatosis. PMID: 12242561
The very high activity of CYP27A1 towards the cholestanol precursor 4-cholesten-3-one may be of importance in connection with the accumulation of cholestanol in patients with cerebrotendinous xanthomatosis PMID: 12777473
The pathogenesis of cholesterolosis may be multifactorial, but is not caused by reduced efflux of cholesterol due to a defect sterol 27-hydroxylase mechanism. PMID: 14672608
We reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified. PMID: 14741198
nuclear receptor-regulated CYP27 expression is likely to be a key integrator of retinoic acid receptor-PPARgamma-LXR signaling, relying on natural ligands and contributing to lipid metabolism in macrophages PMID: 15340076
stimulation of CYP27A1 by PPARgamma may represent a key previously unrecognized mechanism by which PPARgamma protects against atherosclerosis PMID: 15533057
Data suggest that induction of sterol 27-hydroxylase (CYP27A1) by TGF-beta1 may be responsible for some of the anti-atherogenic properties of this cytokine. PMID: 15708352

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Involvement in disease

Cerebrotendinous xanthomatosis (CTX)

Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein.

Protein Families

Cytochrome P450 family

Tissue Specificity

Expressed in the neural retina and underlying retinal pigment epithelium (at protein level). Expressed in the gray and white matter of cerebellum (at protein level).

Database Links

HGNC: 2605

OMIM: 213700

KEGG: hsa:1593

STRING: 9606.ENSP00000258415

UniGene: Hs.516700

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Code	CSB-RA248369A0HU
Size	US$210
	Order now
Image	Western Blot Positive WB detected in: HepG2 whole cell lysate(30µg), A375 whole cell lysate(30µg), Mouse liver tissue lysate(30µg), Rat liver tissue lysate(30µg) All lanes: Cytochrome P450 27A1 antibody at 1:1000 Secondary Goat polyclonal to rabbit IgG at 1/40000 dilution Predicted band size: 60 kDa Observed band size: 55 kDa Exposure time：40s IHC image of CSB-RA248369A0HU diluted at 1:100 and staining in paraffin-embedded human liver cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB. IHC image of CSB-RA248369A0HU diluted at 1:100 and staining in paraffin-embedded human adrenal gland tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB. Immunofluorescence staining of HepG2 cell with CSB-RA248369A0HU at 1:50, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L). Overlay Peak curve showing HepG2 cells stained with CSB-RA248369A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100 for 10min. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/110⁶cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 35min at 4℃.Control antibody (green line) was Rabbit IgG (1ug/110⁶cells) used under the same conditions. Acquisition of >10,000 events was performed.
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CYP27A1 Recombinant Monoclonal Antibody

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