IDH3B Chromosome 20
Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
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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 beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Isocitrate dehydrogenases
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000101365
Associated Conditions (4)
Retinitis pigmentosa
Retinitis pigmentosa 46
IDH3B-related disorder
Retinal dystrophy
Key Variants
RS117928032
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1366785022
Conflicting classifications of pathogenicity
Retinitis pigmentosa 46, Retinitis pigmentosa 46
Health Risk
RS139159095
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS143110856
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1555781271
Conflicting classifications of pathogenicity
Health Risk
RS191680997
Conflicting classifications of pathogenicity
Retinitis pigmentosa, IDH3B-related disorder, Retinitis pigmentosa
Health Risk
RS200242149
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS201237064
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS202127751
Conflicting classifications of pathogenicity
Retinitis pigmentosa, IDH3B-related disorder, Retinal dystrophy
Health Risk
RS376112899
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS556473702
Conflicting classifications of pathogenicity
IDH3B-related disorder, IDH3B-related disorder
Health Risk
RS745313320
Conflicting classifications of pathogenicity
Retinitis pigmentosa 46, Retinitis pigmentosa 46
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117928032 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1366785022 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 46, Retinitis pigmentosa 46 |
| RS139159095 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS143110856 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1555781271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191680997 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, IDH3B-related disorder, Retinitis pigmentosa |
| RS200242149 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS201237064 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS202127751 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, IDH3B-related disorder, Retinal dystrophy |
| RS376112899 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS556473702 | Health Risk | Conflicting classifications of pathogenicity | IDH3B-related disorder, IDH3B-related disorder |
| RS745313320 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 46, Retinitis pigmentosa 46 |
| RS746209011 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754403242 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS760619105 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS776399707 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778097475 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS781697514 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS886056569 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS886056573 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1308472429 | Health Risk | Likely pathogenic | — |
| RS1374351136 | Health Risk | Likely pathogenic | — |
| RS1568548317 | Health Risk | Likely pathogenic | — |
| RS2146321981 | Health Risk | Likely pathogenic | — |
| RS2514760524 | Health Risk | Likely pathogenic | — |
| RS2514769253 | Health Risk | Likely pathogenic | — |
| RS747812567 | Health Risk | Likely pathogenic | — |
| RS751526607 | Health Risk | Likely pathogenic | — |
| RS1323401541 | Health Risk | Pathogenic | — |
| RS1448078371 | Health Risk | Pathogenic | — |
| RS1600169350 | Health Risk | Pathogenic | Retinitis pigmentosa 46, Retinitis pigmentosa 46 |
| RS185838502 | Health Risk | Pathogenic | — |
| RS2086993116 | Health Risk | Pathogenic | — |
| RS2514759456 | Health Risk | Pathogenic | — |
| RS767275467 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 46, Retinitis pigmentosa 46 |