ABAT
Homo sapiens
Gene Name: 4-aminobutyrate aminotransferase
Aliases: GABAT, NPD009, GABA-AT, GABA transaminase
Chromosome No: 16
Chromosome Band: 16p13.2
Genetic Category: Genetic Association--Rare single gene variant
Aliases: GABAT, NPD009, GABA-AT, GABA transaminase
Chromosome No: 16
Chromosome Band: 16p13.2
Genetic Category: Genetic Association--Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 5
Evidence score: 2
ASD Reports: 8
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Genetic association has been found between the ABAT gene and autism in an IMGSAC cohort (Barnby et al., 2005).
Molecular Function
The encoded protein mediates catabolism of GABA into succinic semialdehyde.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
ASD
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
DD, epilepsy/seizures
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Measuring human brain GABA in vivo: effects of GABA-transaminase inhibition with vigabatrin.
Highly Cited
Differential effect of gamma-vinyl GABA and valproate on GABA-transaminase from cultured neurones and astrocytes.
Recent Recommendation
Gabapentin may cause reversible visual field constriction: GABA transaminase inhibitors may cause irreversible visual field loss.
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
GEN268C001
missense_variant
rs1731017
c.167A>G;c.221A>G
p.Gln56Arg
IMGSAC
Discovery
