Details for: CYP11B1

Gene ID: 1584

Symbol: CYP11B1

Ensembl ID: ENSG00000160882

Description: cytochrome P450 family 11 subfamily B member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 16.0252
    Cell Significance Index: 429.4000
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.8288
    Cell Significance Index: 12.0800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.7585
    Cell Significance Index: 15.8300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.6475
    Cell Significance Index: 13.9900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.6022
    Cell Significance Index: 5.7200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.4519
    Cell Significance Index: 5.7100
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.4218
    Cell Significance Index: 5.5400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.4110
    Cell Significance Index: 8.0900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.3748
    Cell Significance Index: 6.4800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.3732
    Cell Significance Index: 5.5100
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.3275
    Cell Significance Index: 4.7900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.3173
    Cell Significance Index: 5.3400
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.2632
    Cell Significance Index: 2.9300
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.2291
    Cell Significance Index: 2.9900
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.2233
    Cell Significance Index: 2.4600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1732
    Cell Significance Index: 2.4800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.1332
    Cell Significance Index: 2.7100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: 0.1324
    Cell Significance Index: 2.6400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0388
    Cell Significance Index: 0.3200
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.0295
    Cell Significance Index: 0.3300
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.0191
    Cell Significance Index: 0.1700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.0074
    Cell Significance Index: 0.2600
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0045
    Cell Significance Index: 0.0300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.0039
    Cell Significance Index: 0.0600
  • Cell Name: adipocyte (CL0000136)
    Fold Change: 0.0023
    Cell Significance Index: 0.0300
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0003
    Cell Significance Index: -0.6100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0003
    Cell Significance Index: -0.0100
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: -0.0006
    Cell Significance Index: -0.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0010
    Cell Significance Index: -0.2100
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0015
    Cell Significance Index: -0.0300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0018
    Cell Significance Index: -0.0400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0037
    Cell Significance Index: -0.1200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0038
    Cell Significance Index: -0.0800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0055
    Cell Significance Index: -0.1800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0060
    Cell Significance Index: -0.1500
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0061
    Cell Significance Index: -0.0700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0068
    Cell Significance Index: -0.3000
  • Cell Name: macrophage (CL0000235)
    Fold Change: -0.0069
    Cell Significance Index: -0.0700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0082
    Cell Significance Index: -0.3100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0083
    Cell Significance Index: -0.0900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0087
    Cell Significance Index: -0.1800
  • Cell Name: obsolete animal cell (CL0000548)
    Fold Change: -0.0089
    Cell Significance Index: -0.0900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0092
    Cell Significance Index: -0.6200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0102
    Cell Significance Index: -0.2600
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0123
    Cell Significance Index: -0.1300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0142
    Cell Significance Index: -0.3100
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: -0.0142
    Cell Significance Index: -0.1600
  • Cell Name: naive B cell (CL0000788)
    Fold Change: -0.0171
    Cell Significance Index: -0.1800
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.0200
    Cell Significance Index: -0.2400
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.0209
    Cell Significance Index: -0.1300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0223
    Cell Significance Index: -0.5400
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.0240
    Cell Significance Index: -0.3000
  • Cell Name: collagen secreting cell (CL0000667)
    Fold Change: -0.0241
    Cell Significance Index: -0.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0263
    Cell Significance Index: -0.7500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0270
    Cell Significance Index: -0.3600
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.0283
    Cell Significance Index: -0.3600
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0311
    Cell Significance Index: -0.4200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0343
    Cell Significance Index: -0.4400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0357
    Cell Significance Index: -1.1300
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0382
    Cell Significance Index: -0.4600
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0443
    Cell Significance Index: -0.5100
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: -0.0452
    Cell Significance Index: -0.3800
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0453
    Cell Significance Index: -0.5800
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.0457
    Cell Significance Index: -0.5300
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.0472
    Cell Significance Index: -0.5900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0474
    Cell Significance Index: -0.6200
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: -0.0476
    Cell Significance Index: -0.4200
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.0476
    Cell Significance Index: -0.5000
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.0480
    Cell Significance Index: -0.5700
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: -0.0488
    Cell Significance Index: -0.3800
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: -0.0502
    Cell Significance Index: -0.5300
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: -0.0503
    Cell Significance Index: -0.4200
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.0503
    Cell Significance Index: -0.5400
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0505
    Cell Significance Index: -0.5700
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0506
    Cell Significance Index: -0.6000
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.0525
    Cell Significance Index: -0.6200
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0528
    Cell Significance Index: -0.7400
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.0531
    Cell Significance Index: -0.5400
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.0532
    Cell Significance Index: -0.7000
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0537
    Cell Significance Index: -0.5200
  • Cell Name: stromal cell (CL0000499)
    Fold Change: -0.0548
    Cell Significance Index: -0.5600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0557
    Cell Significance Index: -0.6500
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: -0.0560
    Cell Significance Index: -0.5800
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.0570
    Cell Significance Index: -0.6800
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.0576
    Cell Significance Index: -0.5400
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.0579
    Cell Significance Index: -0.6000
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.0582
    Cell Significance Index: -0.3900
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.0598
    Cell Significance Index: -0.5800
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.0606
    Cell Significance Index: -0.7300
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0617
    Cell Significance Index: -0.6600
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: -0.0618
    Cell Significance Index: -0.6700
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.0626
    Cell Significance Index: -0.6900
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0633
    Cell Significance Index: -0.6300
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0649
    Cell Significance Index: -0.8900
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: -0.0649
    Cell Significance Index: -0.6000
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: -0.0652
    Cell Significance Index: -0.6100
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: -0.0660
    Cell Significance Index: -0.7600
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: -0.0660
    Cell Significance Index: -0.4200
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: -0.0668
    Cell Significance Index: -0.7200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** CYP11B1 is a mitochondrial enzyme that belongs to the cytochrome P450 family, a group of enzymes responsible for the oxidation of various substrates. The CYP11B1 enzyme is specifically involved in the conversion of cholesterol to 11-deoxycortisol, a precursor to cortisol. This enzyme is highly expressed in the adrenal cortex, where it is responsible for the production of cortisol and aldosterone. CYP11B1 is also found in other tissues, including the kidney, intestine, and immune cells, where it plays a role in regulating blood pressure, glucose homeostasis, and immune response. **Pathways and Functions** CYP11B1 is involved in several key pathways, including: 1. **Aldosterone biosynthetic process**: CYP11B1 is responsible for the conversion of 11-deoxycortisol to aldosterone, which plays a crucial role in regulating blood pressure and electrolyte balance. 2. **C21-steroid hormone biosynthetic process**: CYP11B1 is involved in the biosynthesis of cortisol and aldosterone, two essential glucocorticoids produced by the adrenal gland. 3. **Cortisol biosynthetic process**: CYP11B1 is responsible for the conversion of cholesterol to 11-deoxycortisol, a precursor to cortisol. 4. **Glucocorticoid biosynthesis**: CYP11B1 is involved in the biosynthesis of cortisol and aldosterone, which play a crucial role in regulating glucose homeostasis, immune response, and blood pressure. **Clinical Significance** Abnormalities in CYP11B1 have been linked to several metabolic disorders, including: 1. **Congenital adrenal hyperplasia (CAH)**: CAH is a condition characterized by excessive production of adrenal hormones, including cortisol and aldosterone. Mutations in the CYP11B1 gene can lead to impaired cortisol and aldosterone production, resulting in symptoms such as hypertension, hypokalemia, and glucose intolerance. 2. **Glucocorticoid resistance**: Mutations in the CYP11B1 gene can also lead to glucocorticoid resistance, a condition characterized by impaired response to glucocorticoids, including cortisol and aldosterone. 3. **Hypertension**: Abnormalities in CYP11B1 have been linked to hypertension, a condition characterized by elevated blood pressure. 4. **Glucose intolerance**: Mutations in the CYP11B1 gene can also lead to impaired glucose homeostasis, resulting in glucose intolerance and increased risk of developing type 2 diabetes. In conclusion, CYP11B1 is a crucial enzyme involved in the biosynthesis of cortisol and aldosterone, two essential glucocorticoids produced by the adrenal gland. Abnormalities in this gene have been linked to several metabolic disorders, including CAH, glucocorticoid resistance, hypertension, and glucose intolerance. Further research is needed to fully understand the role of CYP11B1 in human physiology and to develop effective treatments for disorders associated with CYP11B1 abnormalities.

Genular Protein ID: 269886049

Symbol: C11B1_HUMAN

Name: Cytochrome P450 11B1, mitochondrial

UniProtKB Accession Codes:

P15538 Q14095 Q4VAQ8 Q4VAQ9 Q9UML2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 24 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 20 DrugCentral 1 EC 1 EMBL 13 Ensembl 2 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 Rhea 12 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2592361

Title: Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).

PubMed ID: 2592361

DOI: 10.1016/s0021-9258(19)30030-4

PubMed ID: 2401360

Title: Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.

PubMed ID: 2401360

DOI: 10.1016/0014-5793(90)81190-y

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7903314

Title: A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.

PubMed ID: 7903314

DOI: 10.1210/jcem.77.6.7903314

PubMed ID: 3499608

Title: Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11).

PubMed ID: 3499608

DOI: 10.1073/pnas.84.20.7193

PubMed ID: 1741400

Title: Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.

PubMed ID: 1741400

DOI: 10.1073/pnas.89.4.1458

PubMed ID: 1775135

Title: The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.

PubMed ID: 1775135

DOI: 10.1210/mend-5-10-1513

PubMed ID: 1518866

Title: Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.

PubMed ID: 1518866

DOI: 10.1073/pnas.89.17.8327

PubMed ID: 12530636

Title: Modulation of steroid hydroxylase activity in stably transfected V79MZh11B1 and V79MZh11B2 cells by PKC and PKD inhibitors.

PubMed ID: 12530636

DOI: 10.1081/erc-120016808

PubMed ID: 18215163

Title: Purification and functional characterization of human 11beta hydroxylase expressed in Escherichia coli.

PubMed ID: 18215163

DOI: 10.1111/j.1742-4658.2008.06253.x

PubMed ID: 20200334

Title: Adrenocortical zonation in humans under normal and pathological conditions.

PubMed ID: 20200334

DOI: 10.1210/jc.2009-2010

PubMed ID: 23322723

Title: Structural insights into aldosterone synthase substrate specificity and targeted inhibition.

PubMed ID: 23322723

DOI: 10.1210/me.2012-1287

PubMed ID: 2022736

Title: A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

PubMed ID: 2022736

DOI: 10.1172/jci115182

PubMed ID: 9302260

Title: CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

PubMed ID: 9302260

DOI: 10.1093/hmg/6.11.1829

PubMed ID: 10599751

Title: The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population.

PubMed ID: 10599751

DOI: 10.1210/jcem.84.12.6272-6

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10391210

Title: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.

PubMed ID: 10391210

DOI: 10.1038/10297

PubMed ID: 16046588

Title: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

PubMed ID: 16046588

DOI: 10.1210/jc.2005-0379

PubMed ID: 20331679

Title: Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

PubMed ID: 20331679

DOI: 10.1111/j.1399-0004.2010.01403.x

PubMed ID: 20089618

Title: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

PubMed ID: 20089618

DOI: 10.1210/jc.2009-0651

PubMed ID: 20947076

Title: Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11beta-hydroxylase deficiency in a Chinese patient.

PubMed ID: 20947076

DOI: 10.1016/j.fertnstert.2010.09.035

PubMed ID: 23940125

Title: A diagnosis not to be missed: nonclassic steroid 11beta-hydroxylase deficiency presenting with premature adrenarche and hirsutism.

PubMed ID: 23940125

DOI: 10.1210/jc.2013-1306

PubMed ID: 24536089

Title: Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency.

PubMed ID: 24536089

DOI: 10.1530/eje-13-0737

PubMed ID: 24022297

Title: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

PubMed ID: 24022297

DOI: 10.1038/ejhg.2013.197

PubMed ID: 24987415

Title: Two novel CYP11B1 gene mutations in patients from two Croatian families with 11 beta-hydroxylase deficiency.

PubMed ID: 24987415

DOI: 10.1155/2014/185974

PubMed ID: 26053152

Title: Characterization of the molecular genetic pathology in patients with 11beta-hydroxylase deficiency.

PubMed ID: 26053152

DOI: 10.1111/cen.12834

PubMed ID: 26476331

Title: Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

PubMed ID: 26476331

DOI: 10.1016/j.jsbmb.2015.10.011

Sequence Information:

  • Length: 503
  • Mass: 57573
  • Checksum: 0B36D82513960EE9
  • Sequence:
    • MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG 
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR 
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA 
RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM 
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS 
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT 
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP 
ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED 
IKMVYSFILR PSMFPLLTFR AIN

Genular Protein ID: 4190777884

Symbol: Q8TDD0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8TDD0

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 18 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 Rhea 8 RuleBase 1 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 503
  • Mass: 57605
  • Checksum: 6866CC7A58994AB6
  • Sequence:
    • MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG 
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR 
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA 
RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM 
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS 
PDAIKANSME LTAGSMDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT 
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP 
ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED 
IKMVYSFILR PSMFPLLTFR AIN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.