GLUD2 Chromosome X
Glutamate dehydrogenase 2
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What This Gene Does
The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010]
Associated Conditions (5)
Parkinson disease
late-onset
See cases
GLUD2-related disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS199547711
Conflicting classifications of pathogenicity
Health Risk
RS756544884
Conflicting classifications of pathogenicity
Health Risk
RS9697983
Conflicting classifications of pathogenicity
Parkinson disease, late-onset, See cases
Health Risk
RS140532390
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199547711 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756544884 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9697983 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, late-onset, See cases |
| RS140532390 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |