ELOVL2
Homo sapiens
Gene Name: ELOVL fatty acid elongase 2
Aliases: SSC2
Chromosome No: 6
Chromosome Band: 6p24.2
Genetic Category: Genetic association-Rare single gene variant
Aliases: SSC2
Chromosome No: 6
Chromosome Band: 6p24.2
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 8
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 8
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.
Molecular Function
The protein encoded by the ELOVL2 gene catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children.
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
GEN1038C001
3_prime_UTR_variant
rs17606561
c.*1655C>T
243 Chinese ASD patients, 243 unrelated healthy controls
Discovery
GEN1038C002
intron_variant
rs3756963
c.4-11112A>G
243 Chinese ASD patients, 243 unrelated healthy controls
Discovery
GEN1038C003
intron_variant
rs10498676
c.4-15957C>T
243 Chinese ASD patients, 243 unrelated healthy controls
Discovery
GEN1038C004
intron_variant
rs9468304
c.3+2296C>T
243 Chinese ASD patients, 243 unrelated healthy controls
Discovery