HSD11B1
Homo sapiens
Gene Name: hydroxysteroid (11-beta) dehydrogenase 1
Aliases: HDL; 11-DH; HSD11; HSD11B; HSD11L; SDR26C1; MGC13539; 11-beta-HSD1; HSD11B1
Chromosome No: 1
Chromosome Band: 1q32.2
Genetic Category: Syndromic-Rare single gene variant
Aliases: HDL; 11-DH; HSD11; HSD11B; HSD11L; SDR26C1; MGC13539; 11-beta-HSD1; HSD11B1
Chromosome No: 1
Chromosome Band: 1q32.2
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 4
Annotated variants: 2
Associated CNVs: 4
Evidence score: 0
ASD Reports: 9
Recent Reports: 4
Annotated variants: 2
Associated CNVs: 4
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the HSD11B1 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009).
Molecular Function
The encoded protein is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. It can also catalyze the reverse reaction, the conversion of cortisone to cortisol.
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
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Highly Cited
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reducta...
Highly Cited
A transgenic model of visceral obesity and the metabolic syndrome.
Highly Cited
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
Recent Recommendation
Overexpression of 11beta-hydroxysteroid dehydrogenase type 1 in hepatic and visceral adipose tissue is associated with metabolic disorders in morbi...
Recent Recommendation
HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia.
Recent Recommendation
Prenatal stress and neurodevelopment of the child: focus on the HPA axis and role of the placenta.
Recent Recommendation
Relationship between hepatic phenotype and changes in gene expression in cytochrome P450 reductase (POR) null mice.
