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Relevance to Autism

Genetic association has been found between the GSTM1 gene and autism in a US cohort (Buyske et al., 2006).

Molecular Function

The encoded protein has glutathione transferase activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism.
ASD
Highly Cited
Molecular epidemiology of the human glutathione S-transferase genotypes GSTM1 and GSTT1 in cancer susceptibility.
Recent Recommendation
The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothio...

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN115C001 
 copy_number_loss 
  
 N/A 
 N/A 
 US 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Deletion-Duplication
 24
 
1
Duplication
 2
 
1
Deletion-Duplication
 23
 
1
Deletion
 2
 
1
Duplication
 2
 
1
Deletion
 3
 

Model Summary

GSTM1 genotype may confer protection against VPA-induced neuronal death.

References

Type
Title
Author, Year
Primary
Animal model of autism using GSTM1 knockout mice and early post-natal sodium valproate treatment.

M_GSTM1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted replacement of exons 1-5 with a loxP-neo-LoxP cassette with 400 mg/kg VPA administration on P14.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57B16Jx129 SvEv
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GSTM1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased locomotor activity indicated by fewere crawl-under behaviors
Exp Paradigm: Un-paired motor activity assay
 NA
 Unreported
Social interaction1
Abnormal
Description: Abnormal long lasting defects in social interaction
Exp Paradigm: Social interaction test after social isolation
 Reciprocal social interaction test
 Unreported
Apoptosis1
Increased
Description: Increased apoptosis in granule cells of hippocampus and cerebellum
Exp Paradigm: Tunel assay of brain slices
 Tunel assay
 P14
Metabolite levels: neurometabolites1
Abnormal
Description: Abnormal significant alterations in brain chemistry
Exp Paradigm: Brain chemistry
 High-performance liquid chromatography (hplc)
 1 month
General characteristics1
 No change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory





Download GSTM1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARL6IP6 ADP-ribosylation-like factor 6 interacting protein 6 151188 B3KMZ5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DAO D-amino-acid oxidase 1610 P14920 IP; LC-MS/MS
Huttlin EL , et al. 2015
GSTM3 glutathione S-transferase mu 3 (brain) 2947 P21266 Y2H
Corominas R , et al. 2014
HAUS7 HAUS augmin-like complex, subunit 7 55559 Q99871 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 MS/MS
Kim W , et al. 2011
MIB1 mindbomb E3 ubiquitin protein ligase 1 307594 D3ZUV2 Affinity chromatography; LC-MS/MS
Mertz J , et al. 2015

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