IDH3A Chromosome 15
Isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
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What This Gene Does
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Isocitrate dehydrogenases
Locus Type
gene with protein product
Location
15q25.1
Ensembl
ENSG00000166411
Associated Conditions (3)
Retinitis pigmentosa
Retinitis pigmentosa 90
Ovarian serous cystadenocarcinoma
Key Variants
RS149862950
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 90, Retinitis pigmentosa
Health Risk
RS756333430
Conflicting classifications of pathogenicity
Retinitis pigmentosa 90, Retinitis pigmentosa 90
Health Risk
RS756712426
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 90, Retinitis pigmentosa
Health Risk
RS1033207881
Likely pathogenic
Health Risk
RS1384133905
Likely pathogenic
Health Risk
RS1467467395
Likely pathogenic
Health Risk
RS2074708654
Likely pathogenic
Health Risk
RS2141299875
Likely pathogenic
Health Risk
RS767257701
Likely pathogenic
Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS1168782890
Pathogenic
Health Risk
RS1391416524
Pathogenic
Health Risk
RS2074682724
Pathogenic
Retinitis pigmentosa 90, Retinitis pigmentosa 90
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149862950 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 90, Retinitis pigmentosa |
| RS756333430 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |
| RS756712426 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 90, Retinitis pigmentosa |
| RS1033207881 | Health Risk | Likely pathogenic | — |
| RS1384133905 | Health Risk | Likely pathogenic | — |
| RS1467467395 | Health Risk | Likely pathogenic | — |
| RS2074708654 | Health Risk | Likely pathogenic | — |
| RS2141299875 | Health Risk | Likely pathogenic | — |
| RS767257701 | Health Risk | Likely pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS1168782890 | Health Risk | Pathogenic | — |
| RS1391416524 | Health Risk | Pathogenic | — |
| RS2074682724 | Health Risk | Pathogenic | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |
| RS2074683444 | Health Risk | Pathogenic | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |
| RS2074705330 | Health Risk | Pathogenic | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |
| RS2074707744 | Health Risk | Pathogenic | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |
| RS2141934667 | Health Risk | Pathogenic | — |
| RS2141942213 | Health Risk | Pathogenic | — |
| RS753999676 | Health Risk | Pathogenic | — |
| RS765473830 | Health Risk | Pathogenic | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |
| RS770798851 | Health Risk | Pathogenic | Retinitis pigmentosa 90, Retinitis pigmentosa 90 |