SUCLG2
Homo sapiens
Gene Name: succinate-CoA ligase, GDP-forming, beta subunit
Aliases: G-BETA
Chromosome No: 3
Chromosome Band: 3p14.1
Genetic Category: Rare Single Gene variant
Aliases: G-BETA
Chromosome No: 3
Chromosome Band: 3p14.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 7
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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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
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Childhood apraxia of speech
DD
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.
