IDH3B Chromosome 20

Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
35 variants 35 Health Risk

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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
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
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