1. Gene
  2. IDH3A - isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Gene

IDH3A - isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Gene

Homo sapiens

Also known as RP90

Gene ID: 3419 | Gene type: protein coding

About IDH3A

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,149,362-78,171,945 (from NCBI)

This gene has 24 transcripts (splice variants), 259 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 59.2), adrenal (RPKM 37.1) and 25 other tissues.

Summary

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]

IDH3A Products(1)

mRNA Protein Name
NM_005530.3 NP_005521.1 isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial precursor

IDH3A Protein Structure

Iso_dh

Iso_dh: Isocitrate/isopropylmalate dehydrogenase (33 - 358)

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
Protein Preferred Names Protein Names

isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial

H-IDH alpha

Related Diseases

Diseases Alias
Retinitis Pigmentosa 90

RP90

Retinitis Pigmentosa, Type 90

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Juxtacortical Chondroma

Periosteal Chondroma

2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus IDH3A VGNC VGNC:53942
Felis catus IDH3A VGNC VGNC:104352
Mus musculus IDH3A MGD MGI:1915084
Rattus norvegicus IDH3A RGD RGD:70889
Canis familiaris IDH3A VGNC VGNC:53184
Macaca mulatta IDH3A VGNC VGNC:84352