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Aliases for CYP11A1 Gene

Aliases for CYP11A1 Gene

  • Cytochrome P450 Family 11 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XIA (Cholesterol Side Chain Cleavage) 2 3
  • Cytochrome P450 11A1 3 4
  • Cytochrome P450(Scc) 3 4
  • EC 1.14.15.6 4 61
  • CYPXIA1 3 4
  • CYP11A 3 4
  • Cytochrome P450, Family 11, Subfamily A, Polypeptide 1 2
  • Cholesterol Side-Chain Cleavage Enzyme, Mitochondrial 3
  • Cytochrome P450 Family 11 Subfamily A Polypeptide 1 3
  • Cholesterol Monooxygenase (Side-Chain-Cleaving) 2
  • Cholesterol Monooxygenase (Side-Chain Cleaving) 3
  • Cholesterol 20-22 Desmolase 3
  • Cholesterol Desmolase 4
  • Steroid 20-22-Lyase 3
  • EC 1.14.15 61
  • P450SCC 3

External Ids for CYP11A1 Gene

Previous HGNC Symbols for CYP11A1 Gene

  • CYP11A

Previous GeneCards Identifiers for CYP11A1 Gene

  • GC15M067746
  • GC15M072206
  • GC15M072345
  • GC15M072417
  • GC15M074630
  • GC15M051425

Summaries for CYP11A1 Gene

Entrez Gene Summary for CYP11A1 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 catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP11A1 Gene

CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP11A1 include Adrenal Insufficiency, Congenital, With 46Xy Sex Reversal, Partial Or Complete and Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency. Among its related pathways are Cytochrome P450 - arranged by substrate type and Insulin secretion. 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 CYP11A1 Gene

  • Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.

Gene Wiki entry for CYP11A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP11A1 Gene

Genomics for CYP11A1 Gene

Regulatory Elements for CYP11A1 Gene

Enhancers for CYP11A1 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
GH15G074380 2.1 FANTOM5 Ensembl ENCODE dbSUPER 8.2 -24.9 -24921 24.1 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000260274 SEMA7A ISLR ENSG00000212279 EDC3 CYP11A1 SCAMP5 ARID3B CYP1A1 LOC729739
GH15G074373 1.6 FANTOM5 ENCODE dbSUPER 9.1 -6.5 -6463 2.0 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF143 ZNF207 FOS DEK ZNF263 CSK SEMA7A UBL7-AS1 UBL7 ARID3B ENSG00000212279 CYP11A1 SCAMP2 LOC729739 ISLR
GH15G074361 1 ENCODE 9.5 +1.8 1847 9.0 PKNOX1 ATF1 ZFP64 FEZF1 ZNF48 ELK1 FOS ZHX2 TSHZ1 SMARCB1 CSK ISLR SEMA7A UBL7 UBL7-AS1 ENSG00000212279 ARID3B CYP11A1 SCAMP5 LOC729739
GH15G074377 1.1 Ensembl ENCODE dbSUPER 7 -11.2 -11189 2.1 ZNF121 ZFHX2 TBL1XR1 EED IKZF1 IKZF2 RELA EGR2 SEMA7A UBL7-AS1 UBL7 ENSG00000212279 CSK CYP11A1 LOC729739 ENSG00000261384 LINC02255 ENSG00000274937
GH15G074641 1.5 Ensembl ENCODE dbSUPER 4.8 -275.2 -275210 2.9 HDGF PKNOX1 SIN3A GLI4 FEZF1 ZNF2 ZNF121 KLF7 ZNF263 SP3 LOC101929333 ARID3B CYP11A1 GC15P074629 EDC3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP11A1 on UCSC Golden Path with GeneCards custom track

Promoters for CYP11A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079227 1640 601 TBP ATF1 FUS ZFP64 ZNF48 RARA CREM ZNF362 GATAD2B SMARCB1

Genomic Location for CYP11A1 Gene

Chromosome:
15
Start:
74,337,759 bp from pter
End:
74,367,740 bp from pter
Size:
29,982 bases
Orientation:
Minus strand

Genomic View for CYP11A1 Gene

Genes around CYP11A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP11A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP11A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP11A1 Gene

Proteins for CYP11A1 Gene

  • Protein details for CYP11A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05108-CP11A_HUMAN
    Recommended name:
    Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein Accession:
    P05108
    Secondary Accessions:
    • A8K8D5
    • B3KPU8
    • G3XAD7
    • Q15081
    • Q16805
    • Q8N1A7

    Protein attributes for CYP11A1 Gene

    Size:
    521 amino acids
    Molecular mass:
    60102 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Interacts with FDX1/adrenodoxin.

    Three dimensional structures from OCA and Proteopedia for CYP11A1 Gene

    Alternative splice isoforms for CYP11A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP11A1 Gene

Selected DME Specific Peptides for CYP11A1 Gene

P05108:
  • RQCLGRR
  • RLFRTKTW
  • VLHRRIK
  • EIPSPGDNGW
  • RSVLVKGCQ
  • VPLLKASIKETLRLHPI
  • YTQNFYW
  • DPEDVALLF
  • TEMLAGGVDTTSM
  • GVRQCLG
  • NLYHFWR
  • MFHTSVP
  • FRNLGFGWGVRQC
  • IPAKTLVQV
  • PERFLIPPW
  • GRRIAELEMT
  • AGGVDTT
  • LQWHLYE
  • MLRAEVLAAR
  • NFQKYGPIYREKLGN

Post-translational modifications for CYP11A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP11A1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYP11A1 (CYP11A1)
  • Cloud-Clone Corp. Antibodies for CYP11A1

Domains & Families for CYP11A1 Gene

Gene Families for CYP11A1 Gene

Protein Domains for CYP11A1 Gene

Suggested Antigen Peptide Sequences for CYP11A1 Gene

Graphical View of Domain Structure for InterPro Entry

P05108

UniProtKB/Swiss-Prot:

CP11A_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP11A1: view

Function for CYP11A1 Gene

Molecular function for CYP11A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + 6 reduced adrenodoxin + 3 O(2) + 6 H(+) = pregnenolone + 4-methylpentanal + 6 oxidized adrenodoxin + 4 H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
UniProtKB/Swiss-Prot Induction:
By 8-bromo cyclic AMP.

Enzyme Numbers (IUBMB) for CYP11A1 Gene

Gene Ontology (GO) - Molecular Function for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008386 cholesterol monooxygenase (side-chain-cleaving) activity TAS,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,IDA 21636783
genes like me logo Genes that share ontologies with CYP11A1: view
genes like me logo Genes that share phenotypes with CYP11A1: view

Human Phenotype Ontology for CYP11A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP11A1 Gene

MGI Knock Outs for CYP11A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP11A1 Gene

Localization for CYP11A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11A1 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 CYP11A1 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS,IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with CYP11A1: view

Pathways & Interactions for CYP11A1 Gene

genes like me logo Genes that share pathways with CYP11A1: view

UniProtKB/Swiss-Prot P05108-CP11A_HUMAN

  • Pathway: Lipid metabolism; C21-steroid hormone metabolism.

Gene Ontology (GO) - Biological Process for CYP11A1 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 TAS,IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process ISS --
genes like me logo Genes that share ontologies with CYP11A1: view

No data available for SIGNOR curated interactions for CYP11A1 Gene

Drugs & Compounds for CYP11A1 Gene

(51) Drugs for CYP11A1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminoglutethimide Approved Pharma Target, inhibitor 2
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist, Enzyme, inhibitor 2171
Digoxin Approved Pharma Enzyme, inhibitor 139
Testosterone Approved, Investigational Pharma Enzyme, inhibitor Endogenous androgen receptor agonist 563
Clomifene Approved, Investigational Pharma Enzyme, inhibitor 0

(51) Additional Compounds for CYP11A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
20alpha-hydroxycholesterol
  • (3beta,20R)-cholest-5-ene-3,20-diol
  • 20-Hydroxycholesterol
  • 20alpha-hydroxy cholesterol
  • 20alpha-Hydroxycholesterol
516-72-3
7-dehydrocholesterol
  • (-)-7-dehydrocholesterol
  • (3b)-Cholesta-5,7-dien-3-ol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 10,13-Dimethyl-17-(6-methylheptan-2-yl)-2,3,4,9,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
  • 17-(1,5-Dimethylhexyl)-10,13-dimethyl-2,3,4,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
434-16-2
17a,20a-Dihydroxycholesterol
  • 17alpha,20alpha-Dihydroxycholesterol
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
  • 17-Hydroxypregnenolone
  • 17-OH-pregnenolone
  • 17a-Hydroxypregnolone
  • 17alpha-Hydroxypregnanolone
387-79-1
20a,22b-Dihydroxycholesterol
  • 20alpha,22beta-Dihydroxycholesterol
  • Not Available
15234-55-6
genes like me logo Genes that share compounds with CYP11A1: view

Transcripts for CYP11A1 Gene

Unigene Clusters for CYP11A1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP11A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - - - - - -
SP4: -
SP5: -
SP6: - - -

Relevant External Links for CYP11A1 Gene

GeneLoc Exon Structure for
CYP11A1
ECgene alternative splicing isoforms for
CYP11A1

Expression for CYP11A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP11A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP11A1 Gene

This gene is overexpressed in Adrenal Gland (x47.1).

Protein differential expression in normal tissues from HIPED for CYP11A1 Gene

This gene is overexpressed in Adrenal (29.2), Fetal testis (20.5), Placenta (10.0), and Testis (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP11A1 Gene



Protein tissue co-expression partners for CYP11A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP11A1 Gene:

CYP11A1

SOURCE GeneReport for Unigene cluster for CYP11A1 Gene:

Hs.303980

Evidence on tissue expression from TISSUES for CYP11A1 Gene

  • Nervous system(4.7)
  • Adrenal gland(4.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP11A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
General:
  • blood
  • blood vessel
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CYP11A1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CYP11A1 Gene

Orthologs for CYP11A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP11A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP11A1 34
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia CYP11A1 34 35
  • 85.42 (n)
cow
(Bos Taurus)
Mammalia CYP11A1 34 35
  • 81.76 (n)
rat
(Rattus norvegicus)
Mammalia Cyp11a1 34
  • 80.31 (n)
mouse
(Mus musculus)
Mammalia Cyp11a1 34 16 35
  • 80.18 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP11A1 35
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP11A1 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP11A1 34 35
  • 64.06 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495360 34
  • 57.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563363 34
  • 57.82 (n)
cyp11a1 35
  • 46 (a)
OneToMany
CYP11A1 (2 of 2) 35
  • 46 (a)
OneToMany
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11583 34
fruit fly
(Drosophila melanogaster)
Insecta dib 35
  • 24 (a)
ManyToMany
shd 35
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cyp-44A1 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for CYP11A1 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 CYP11A1 Gene

ENSEMBL:
Gene Tree for CYP11A1 (if available)
TreeFam:
Gene Tree for CYP11A1 (if available)

Paralogs for CYP11A1 Gene

Paralogs for CYP11A1 Gene

(4) SIMAP similar genes for CYP11A1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CYP11A1: view

Variants for CYP11A1 Gene

Sequence variations from dbSNP and Humsavar for CYP11A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121912811 Pathogenic, Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] 74,345,103(-) GAAGG(C/T)GGGCT reference, missense
rs121912812 Pathogenic, Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] 74,339,668(-) GGCTG(C/T)GCGGC reference, missense
rs121912813 Pathogenic, Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] 74,347,903(-) CCTGT(G/T)GAAGT reference, missense, utr-variant-5-prime
rs121912814 Pathogenic, Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] 74,338,761(-) ACTGG(A/T)GCAAG reference, missense
rs387906601 Pathogenic, Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] 74,343,953(-) GATGC(C/T)GGAGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP11A1 Gene

Variant ID Type Subtype PubMed ID
esv28469 CNV gain 19812545
esv3636903 CNV loss 21293372
nsv1121512 CNV deletion 24896259
nsv510938 OTHER complex 20534489
nsv569972 CNV gain 21841781
nsv569973 CNV gain+loss 21841781
nsv984091 CNV duplication 23825009

Variation tolerance for CYP11A1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP11A1 Gene

Human Gene Mutation Database (HGMD)
CYP11A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP11A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP11A1 Gene

Disorders for CYP11A1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for CYP11A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete
  • adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete
inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency
congenital adrenal insufficiency
  • adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete
lipoid adrenal hyperplasia
  • lipoid congenital adrenal hyperplasia
polycystic ovary syndrome
  • multicystic ovaries
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP11A_HUMAN
  • Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. {ECO:0000269 PubMed:11502818, ECO:0000269 PubMed:12161514, ECO:0000269 PubMed:16705068, ECO:0000269 PubMed:18182448, ECO:0000269 PubMed:19116240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP11A1

Genetic Association Database (GAD)
CYP11A1
Human Genome Epidemiology (HuGE) Navigator
CYP11A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP11A1
genes like me logo Genes that share disorders with CYP11A1: view

No data available for Genatlas for CYP11A1 Gene

Publications for CYP11A1 Gene

  1. Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk. (PMID: 20199803) Terry K. … De Vivo I. (Gynecol. Oncol. 2010) 3 22 46 64
  2. A novel homozygous mutation in CYP11A1 gene is associated with late- onset adrenal insufficiency and hypospadias in a 46,XY patient. (PMID: 19116240) Rubtsov P. … Tiulpakov A. (J. Clin. Endocrinol. Metab. 2009) 3 4 22 64
  3. CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome. (PMID: 18725155) Pusalkar M. … Maitra A. (Fertil. Steril. 2009) 3 22 46 64
  4. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. (PMID: 18182448) Kim C.J. … Miller W.L. (J. Clin. Endocrinol. Metab. 2008) 3 4 22 64
  5. Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. (PMID: 17507624) Cunningham J.M. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 22 46 64

Products for CYP11A1 Gene

Sources for CYP11A1 Gene

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