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Relevance to Autism

Rare variants in the SUCLG2 gene have been identified with autism (Bucan et al., 2009).

Molecular Function

A mitochondrial matrix enzyme

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Highly Cited
Fibroblast growth factor 2-induced cytoplasmic asparaginyl-tRNA synthetase promotes survival of osteoblasts by regulating anti-apoptotic PI3K/Akt s...
Recent Recommendation
Localization and nucleotide specificity of Blastocystis succinyl-CoA synthetase.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN242R001 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN242R002 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN242R003 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN242R004 
 stop_gained 
 c.355C>T 
 p.Gln119Ter 
 De novo 
 NA 
 Simplex 
 GEN242R005 
 stop_gained 
 c.715C>T 
 p.Gln239Ter 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion-Duplication
 21
 
3
Deletion
 2
 
3
Deletion
 10
 
3
Deletion
 1
 
3
Deletion
 7
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CUL3 cullin 3 8452 B7Z600 IP; MS; COMPASS
Bennett EJ , et al. 2010
DNAJC12 DnaJ homolog subfamily C member 12 56521 Q9UKB3 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
GALNT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 63917 B3KWF4 IP; LC-MS/MS
Huttlin EL , et al. 2015
GPR143 G protein-coupled receptor 143 4935 P51810 IP/WB; GST
Schiaffino MV , et al. 1999
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 10166 Q9Y619 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP19 ubiquitin specific peptidase 19 10869 O94966 IP; MS; COMPASS
Sowa ME , et al. 2009
ZNF146 zinc finger protein 146 7705 Q15072 IP; LC-MS/MS
Huttlin EL , et al. 2015
SUCLG1 succinate-CoA ligase, alpha subunit 399539 O19069 X-ray crystallography
Fraser ME , et al. 2000

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