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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. Rare mutations in the ADSL gene have been found. For example, one study (Sivendran et al., 2004) found an autistic individual with two heterozygous ADSL mutations.

Molecular Function

The encoded protein mediates de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.
ASD
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, epilepsy/seizures
Developmental regression
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
DD, ID
Highly Cited
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.
Adenylosuccinase deficiency
Autism, psychomotor delay
Highly Cited
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
ID
Autistic features
Recent Recommendation
Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN005R001 
 missense_variant 
 c.242A>C 
 p.Glu80Asp 
 Familial 
 Maternal 
  
 GEN005R002 
 missense_variant 
 c.263T>G 
 p.Asp87Glu 
 Unknown 
 Not maternal 
  
 GEN005R003 
 missense_variant;missense_variant 
 c.[1288G>A];[1288G>A] 
 p.[Asp430Asn];[Asp430Asn] 
 Familial 
 Both parents 
 Multiplex 
 GEN005R004 
 missense_variant;missense_variant 
 c.[340T>C];[421C>T] 
 p.[Tyr114His];[Arg141Trp] 
 Familial 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 24
 
22
Duplication
 1
 
22
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ALOX5 arachidonate 5-lipoxygenase 240 P09917 IP; LC-MS/MS
Huttlin EL , et al. 2015
CALCOCO2 calcium binding and coiled-coil domain 2 10241 Q13137 Y2H
Corominas R , et al. 2014
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
COMTD1 catechol-O-methyltransferase domain containing 1 118881 Q86VU5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DDA1 DET1 and DDB1 associated 1 79016 Q9BW61 IP; MS; COMPASS
Behrends C , et al. 2010
FGB fibrinogen beta chain 2244 P02675 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa 2961 P29084 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF2I general transcription factor IIi 2969 P78347 Size-exclusion chromatography (SEC); PCP; SILAC
Kristensen AR , et al. 2012
KLHL20 kelch-like family member 20 27252 Q9Y2M5 IP; LC-MS/MS
Huttlin EL , et al. 2015
REL v-rel reticuloendotheliosis viral oncogene homolog (avian) 5966 Q04864 Y2H
Corominas R , et al. 2014
SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 11017 A8K513 IP; LC-MS/MS
Huttlin EL , et al. 2015
TEKT2 Tektin-2 27285 Q9UIF3 IP; LC-MS/MS
Huttlin EL , et al. 2015
TEKT4 Tektin-4 150483 Q8WW24 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP15 ubiquitin specific peptidase 15 9958 Q9Y4E8 IP; MS; COMPASS
Sowa ME , et al. 2009
USP4 ubiquitin specific peptidase 4 (proto-oncogene) 7375 Q13107 IP; MS; COMPASS
Sowa ME , et al. 2009
USP47 ubiquitin specific peptidase 47 55031 Q96K76 IP; LC-MS/MS
Huttlin EL , et al. 2015

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