GPD2
Homo sapiens
Gene Name: glycerol-3-phosphate dehydrogenase 2
Aliases: GDH2, GPDM, mGPDH
Chromosome No: 2
Chromosome Band: 2q24.1
Genetic Category: Rare single gene variant-Genetic association
Aliases: GDH2, GPDM, mGPDH
Chromosome No: 2
Chromosome Band: 2q24.1
Genetic Category: Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 11
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A 25-year-old female patient with intellectual disability, mildly unusual face, and a pervasive developmental disorder was found to carry a compound heterozygous mutation involving the GPD2 gene: a de novo 298 kb deletion containing the NR4A2 and GPD2 genes; and a maternally-inherited missense variant (c.614C>T; p.Pro205Leu) that abolished enzymatic activity (Barge-Schaapveld et al., 2013).
Molecular Function
The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Intellectual disability and hemizygous GPD2 mutation.
ID
PDD (pervasive developmental disorder)
Positive Association
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN535R001b
missense_variant
c.614C>T
p.Pro205Leu
Familial
Maternal
Simplex
GEN535R004
frameshift_variant
c.1920del
p.Gly641AlafsTer12
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN535C001
intergenic_variant
rs3916984
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery
