CYP11B1
Homo sapiens
Gene Name: cytochrome P450, family 11, subfamily B, polypeptide 1
Aliases: FHI; CPN1; CYP11B; P450C11; FLJ36771; DKFZp686B05283
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Syndromic-Rare single gene variant
Aliases: FHI; CPN1; CYP11B; P450C11; FLJ36771; DKFZp686B05283
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
| Associated Disorders: |
|
Relevance to Autism
Genetic association has been found between the CYP11B1 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009).
Molecular Function
This gene encodes a member of the cytochrome P450 superfamily of enzymes participating in the conversion of progesterone to cortisol in the adrenal cortex.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
ASD
Asperger syndrome
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Highly Cited
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
Highly Cited
Expression of 11beta-hydroxylase and aldosterone synthase genes in the rat brain.
Recent Recommendation
Cyp11b1 null mouse, a model of congenital adrenal hyperplasia.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN056C001
missense_variant
rs4541
c.1157C>T;c.1370C>T
Caucasian
Discovery
GEN056C002
missense_variant
rs5288
c.771T>G;c.984T>G
Caucasian
Discovery
