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Aliases for CYP11B1 Gene

Aliases for CYP11B1 Gene

  • Cytochrome P450 Family 11 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 1 2 3
  • Cytochrome P450, Family 11, Subfamily B, Polypeptide 1 2 3
  • Steroid 11-Beta-Monooxygenase 2 3
  • Steroid 11-Beta-Hydroxylase 3 4
  • Cytochrome P-450c11 3 4
  • Cytochrome P450C11 3 4
  • EC 1.14.15.4 4 61
  • CYPXIB1 3 4
  • Cytochrome P450 11B1, Mitochondrial 3
  • Cytochrome P450 XIB1 3
  • EC 1.14.15 61
  • P450C11 3
  • CYP11B 3
  • S11BH 4
  • CPN1 3
  • FHI 3

External Ids for CYP11B1 Gene

Previous HGNC Symbols for CYP11B1 Gene

  • CYP11B

Previous GeneCards Identifiers for CYP11B1 Gene

  • GC08M142258
  • GC08M144187
  • GC08M143758
  • GC08M144016
  • GC08M143950
  • GC08M139206

Summaries for CYP11B1 Gene

Entrez Gene Summary for CYP11B1 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 protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP11B1 Gene

CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP11B1 include Adrenal Hyperplasia, Congenital, Due To 11-Beta-Hydroxylase Deficiency and Aldosteronism, Glucocorticoid-Remediable. Among its related pathways are Cytochrome P450 - arranged by substrate type and superpathway of steroid hormone biosynthesis. 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 CYP11B2.

UniProtKB/Swiss-Prot for CYP11B1 Gene

  • Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.

Tocris Summary for CYP11B1 Gene

  • Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), steroid 11-beta hydroxylase (E.C. 1.14.15.4), and LTB4 omega-hydroxylase (E.C. 1.14.13.30).

Gene Wiki entry for CYP11B1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP11B1 Gene

Genomics for CYP11B1 Gene

Regulatory Elements for CYP11B1 Gene

Enhancers for CYP11B1 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
GH08G142913 0.8 dbSUPER 0.3 -35.1 -35101 2.4 HDGF KLF1 PKNOX1 TAL1 MAX SIN3A RBBP5 TCF12 GATA3 CTBP1 LYNX1 LOC100133669 GML CYP11B2 CYP11B1
GH08G142912 0.6 dbSUPER 0.3 -33.2 -33243 1.2 PKNOX1 SMAD5 ZBED1 ZIC2 GABPA POLR2A TARDBP PBX2 HNRNPL RBFOX2 LYNX1 LOC100133669 C8orf31 CYP11B2 CYP11B1
GH08G142910 0.6 dbSUPER 0.3 -31.5 -31518 1.1 ZNF263 SIN3A ELF1 REST HIC1 POLR2A HNRNPL RBFOX2 GML LYNX1 LOC100133669 CYP11B2 CYP11B1
GH08G142916 0.5 dbSUPER 0.3 -37.4 -37352 2.0 ZFHX2 ZNF366 SCRT2 MNT LYNX1 LOC100133669 CYP11B2 CYP11B1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP11B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP11B1 Gene

Chromosome:
8
Start:
142,872,354 bp from pter
End:
142,879,846 bp from pter
Size:
7,493 bases
Orientation:
Minus strand

Genomic View for CYP11B1 Gene

Genes around CYP11B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP11B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP11B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP11B1 Gene

Proteins for CYP11B1 Gene

  • Protein details for CYP11B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15538-C11B1_HUMAN
    Recommended name:
    Cytochrome P450 11B1, mitochondrial
    Protein Accession:
    P15538
    Secondary Accessions:
    • Q14095
    • Q4VAQ8
    • Q4VAQ9
    • Q9UML2

    Protein attributes for CYP11B1 Gene

    Size:
    503 amino acids
    Molecular mass:
    57573 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYP11B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP11B1 Gene

Selected DME Specific Peptides for CYP11B1 Gene

P15538:
  • VQQALRQES
  • RQCLGRR
  • LYSLGRNPA
  • RGHKCGVFLLNGP
  • GVFLLNGPEW
  • AGSVDTT
  • LPLLRAALKETLRLYPVG
  • IPAGTLV

Post-translational modifications for CYP11B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP11B1 Gene

Domains & Families for CYP11B1 Gene

Gene Families for CYP11B1 Gene

Protein Domains for CYP11B1 Gene

Graphical View of Domain Structure for InterPro Entry

P15538

UniProtKB/Swiss-Prot:

C11B1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP11B1: view

Function for CYP11B1 Gene

Molecular function for CYP11B1 Gene

GENATLAS Biochemistry:
cytochrome p450,subfamily XIB,polypeptide 1,steroid 11 beta-hydroxylase,mitochondrial,involved in glucocorticoid biosynthesis,stimulated by corticotropin,expressed in zona fasciculata of the adrenal cortex
UniProtKB/Swiss-Prot CatalyticActivity:
A steroid + 2 reduced adrenodoxin + O(2) + 2 H(+) = an 11-beta- hydroxysteroid + 2 oxidized adrenodoxin + H(2)O.
UniProtKB/Swiss-Prot Function:
Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.

Enzyme Numbers (IUBMB) for CYP11B1 Gene

Gene Ontology (GO) - Molecular Function for CYP11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004507 steroid 11-beta-monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
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,IC 2256920
genes like me logo Genes that share ontologies with CYP11B1: view
genes like me logo Genes that share phenotypes with CYP11B1: view

Human Phenotype Ontology for CYP11B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP11B1 Gene

MGI Knock Outs for CYP11B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CYP11B1 Gene

Localization for CYP11B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11B1 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 CYP11B1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CYP11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 2256920
GO:0005743 mitochondrial inner membrane TAS 15026188
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with CYP11B1: view

Pathways & Interactions for CYP11B1 Gene

genes like me logo Genes that share pathways with CYP11B1: view

Gene Ontology (GO) - Biological Process for CYP11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process IDA 2256920
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006955 immune response TAS 12452430
genes like me logo Genes that share ontologies with CYP11B1: view

No data available for SIGNOR curated interactions for CYP11B1 Gene

Drugs & Compounds for CYP11B1 Gene

(39) Drugs for CYP11B1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metyrapone Approved Pharma inhibitor, Target, Enzyme 11-beta hydroxylase inhibitor 12
Mitotane Approved Pharma binder, Target, inducer 12
Ketoconazole Approved, Investigational Pharma Pore Blocker, Enzyme, inhibitor Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 175
Spironolactone Approved Pharma Antagonist, Enzyme, inhibitor, inducer 232
Cimetidine Approved Pharma Inhibition, Inhibitor, Enzyme, inhibitor H2 receptor antagonist, H2 antagonist, I1 agonist 75

(26) Additional Compounds for CYP11B1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17-Hydroxyprogesterone
  • 17-alpha-Hydroxyprogesterone
  • 17-Hydroxypregn-4-ene-3,20-dione
  • 17-Hydroxyprogesterone
  • 17-OH Progesterone
  • 17-OHP
68-96-2
18-Hydroxycorticosterone
  • 11b,18,21-Trihydroxy-pregn-4-ene-3,20-dione
  • 18-Hydroxycorticosterone
561-65-9
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
11b-Hydroxyprogesterone
  • (11beta)-11-hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
  • 11beta-hydroxypregn-4-ene-3,20-dione
600-57-7

(4) Tocris Compounds for CYP11B1 Gene

Compound Action Cas Number
Nepicastat hydrochloride Potent and selective dopamine beta-hydroxylase (DBH) inhibitor; orally bioavailable 170151-24-3
pCPA methyl ester hydrochloride Tryptophan hydroxylase inhibitor 14173-40-1
Ro 61-8048 Potent kynurenine 3-monooxygenase (KMO) inhibitor 199666-03-0
UPF 648 Potent kynurenine 3-monooxygenase (KMO) inhibitor 213400-34-1

(1) ApexBio Compounds for CYP11B1 Gene

Compound Action Cas Number
Ketoconazole Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase 65277-42-1
genes like me logo Genes that share compounds with CYP11B1: view

Drug Products

Transcripts for CYP11B1 Gene

Unigene Clusters for CYP11B1 Gene

Cytochrome P450, family 11, subfamily B, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP11B1 Gene

No ASD Table

Relevant External Links for CYP11B1 Gene

GeneLoc Exon Structure for
CYP11B1
ECgene alternative splicing isoforms for
CYP11B1

Expression for CYP11B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP11B1 Gene

mRNA differential expression in normal tissues according to GTEx for CYP11B1 Gene

This gene is overexpressed in Adrenal Gland (x52.7).

Protein differential expression in normal tissues from HIPED for CYP11B1 Gene

This gene is overexpressed in Adrenal (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP11B1 Gene



Protein tissue co-expression partners for CYP11B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP11B1 Gene:

CYP11B1

SOURCE GeneReport for Unigene cluster for CYP11B1 Gene:

Hs.184927

Evidence on tissue expression from TISSUES for CYP11B1 Gene

  • Blood(4.4)
  • Adrenal gland(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP11B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
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 vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CYP11B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYP11B1 Gene

Orthologs for CYP11B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP11B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC464437 34
  • 98.34 (n)
CYP11B1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp11b2 34
  • 75.2 (n)
mouse
(Mus musculus)
Mammalia Cyp11b2 34 16 35
  • 74.87 (n)
Cyp11b1 35
  • 64 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 72 (a)
ManyToMany
-- 35
  • 69 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 48 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731070 34
  • 57.52 (n)
zebrafish
(Danio rerio)
Actinopterygii cyp11c1 34 35
  • 55.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cyp12c1 36 35
  • 29 (a)
dib 35
  • 24 (a)
ManyToMany
Cyp12a4 35
  • 22 (a)
ManyToMany
Cyp12b2 35
  • 21 (a)
ManyToMany
Cyp12e1 35
  • 21 (a)
ManyToMany
shd 35
  • 21 (a)
ManyToMany
Cyp12a5 35
  • 20 (a)
ManyToMany
Cyp12d1-d 35
  • 20 (a)
ManyToMany
Cyp12d1-p 35
  • 20 (a)
ManyToMany
Cyp49a1 35
  • 19 (a)
ManyToMany
Cyp301a1 35
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ccp-44 36
  • 26 (a)
cyp-44A1 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for CYP11B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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 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)

Evolution for CYP11B1 Gene

ENSEMBL:
Gene Tree for CYP11B1 (if available)
TreeFam:
Gene Tree for CYP11B1 (if available)

Paralogs for CYP11B1 Gene

Paralogs for CYP11B1 Gene

Pseudogenes.org Pseudogenes for CYP11B1 Gene

genes like me logo Genes that share paralogs with CYP11B1: view

Variants for CYP11B1 Gene

Sequence variations from dbSNP and Humsavar for CYP11B1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs104894061 Pathogenic, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,876,242(-) GGACA(C/T)GGTCA reference, missense, utr-variant-5-prime
rs104894062 Pathogenic, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,875,712(-) CTTGC(A/G)GTGGG reference, missense
rs104894067 Pathogenic, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,877,221(-) GTAGG(A/C/G)ATGGG upstream-variant-2KB, reference, missense
rs104894068 Pathogenic, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,875,877(-) GCAGA(C/T)GGTGT reference, missense
rs104894069 Pathogenic, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,879,690(-) CCATG(C/T)CCCGG upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP11B1 Gene

Variant ID Type Subtype PubMed ID
esv2661137 CNV deletion 23128226
esv2673440 CNV deletion 23128226
esv2737938 CNV deletion 23290073
esv3544372 CNV deletion 23714750
esv991235 CNV deletion 20482838
nsv436586 CNV deletion 17901297
nsv470246 CNV loss 18288195
nsv482123 CNV gain 20164927
nsv520940 CNV gain 19592680

Variation tolerance for CYP11B1 Gene

Residual Variation Intolerance Score: 47.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP11B1 Gene

Human Gene Mutation Database (HGMD)
CYP11B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP11B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP11B1 Gene

Disorders for CYP11B1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for CYP11B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
  • adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency
aldosteronism, glucocorticoid-remediable
  • glucocorticoid-remediable aldosteronism
congenital adrenal hyperplasia
  • lipoid congenital adrenal hyperplasia
lipoid adrenal hyperplasia
  • lipoid congenital adrenal hyperplasia
11-beta-hydroxylase-deficient congenital adrenal hyperplasia
  • 11 beta hydroxylase deficient congenital adrenal hyperplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C11B1_HUMAN
  • Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late-onset (NC or LOAH) and cryptic (asymptomatic). {ECO:0000269 PubMed:16046588, ECO:0000269 PubMed:20089618, ECO:0000269 PubMed:2022736, ECO:0000269 PubMed:20331679, ECO:0000269 PubMed:20947076, ECO:0000269 PubMed:23940125, ECO:0000269 PubMed:24022297, ECO:0000269 PubMed:24536089, ECO:0000269 PubMed:24987415, ECO:0000269 PubMed:26053152, ECO:0000269 PubMed:26476331, ECO:0000269 PubMed:9302260}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperaldosteronism, familial, 1 (HALD1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

Relevant External Links for CYP11B1

Genetic Association Database (GAD)
CYP11B1
Human Genome Epidemiology (HuGE) Navigator
CYP11B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP11B1
genes like me logo Genes that share disorders with CYP11B1: view

No data available for Genatlas for CYP11B1 Gene

Publications for CYP11B1 Gene

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. (PMID: 20089618) Parajes S. … Krone N. (J. Clin. Endocrinol. Metab. 2010) 3 4 22 64
  2. Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism. (PMID: 20339375) Zhang G.X. … Zhang X. (Hypertens. Res. 2010) 3 22 46 64
  3. Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects. (PMID: 17980006) Freel E.M. … Connell J.M. (Clin. Endocrinol. (Oxf) 2008) 3 22 46 64
  4. Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene. (PMID: 16984984) Imrie H. … Connell J.M. (J. Clin. Endocrinol. Metab. 2006) 3 22 46 64
  5. Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene. (PMID: 17121536) Barr M. … Davies E. (Clin. Endocrinol. (Oxf) 2006) 3 22 46 64

Products for CYP11B1 Gene

Sources for CYP11B1 Gene

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