SRD5A2
Homo sapiens
Gene Name: steroid 5 alpha-reductase 2
Aliases:
Chromosome No: 2
Chromosome Band: 2p23.1
Genetic Category: Genetic association-Rare single gene variant
Aliases:
Chromosome No: 2
Chromosome Band: 2p23.1
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP within the SRD5A2 gene (rs523349; p.Leu89Val) known to affect enzymatic activity was found to associate with autistic-like traits in female subjects (Zettergren et al., 2013).
Molecular Function
This gene encodes an enzyme that converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids and plays a central role in sexual differentiation and androgen physiology.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Associations between polymorphisms in sex steroid related genes and autistic-like traits.
ALTs
Negative Association
Further investigations of the relation between polymorphisms in sex steroid related genes and autistic-like traits.
ALTs
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
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
GEN556C001
missense_variant
rs523349
c.265C>G
p.Leu89Val
1771 individuals (884 males and 887 females) from The Child and Adolescent Twin Study in Sweden (CATSS), which were all assessed for autistic-like traits (ALTs).
Discovery