IDH2

Function

Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

Involvement in disease

D-2-hydroxyglutaric aciduria 2

D2HGA2

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Glioma

GLM

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

None

The gene represented in this entry is involved in disease pathogenesis.

enetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma.

Post-translational modifications

Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3.

Sequence similarities

Belongs to the isocitrate and isopropylmalate dehydrogenases family.

Cellular localization

• Mitochondrion

Alternative names

• IDH
• ICD-M
• IDP
• NADP(+)-specific ICDH
• Oxalosuccinate decarboxylase
• IDH2

Database links

• swissprot:P48735

Target type

Proteins

Molecular weight

50909Da