RBCC Red Blood Cell Collection

IDHP_HUMAN

Source: BSc_CH
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: IDH2
Protein names and data: IDHP_HUMAN , Isocitrate dehydrogenase [NADP], mitochondrial; IDH; 1.1.1.42 , ICD-M; IDP; NADP(+)-specific ICDH; Oxalosuccinate decarboxylase; Flags: Precursor Lenght: 452 a.a.
Mass: 50909 Da
fasta formatted sequence
Function: Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.
Catalytic activity: Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.
Disease: ( OMIM: 147650 613657 ) D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]: A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Mitochondrion.

Genetic variants

140 - 140 R -> G (in D2HGA2). VAR_065174
140 - 140 R -> Q (in D2HGA2). VAR_065175

Database cross-references

UniProt: P48735
Ensembl: ENST00000330062
MIM: 147650
MIM: 613657
neXtProt: NX_P48735
Antibodypedia: P48735 (may not find the protein thus also not any antibody)
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