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FLASH GENE

Symbol

IDH1

contributors: np/mct - updated : 30-05-2014

HGNC name	isocitrate dehydrogenase 1 (NADP+), soluble
HGNC id	5382

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       IDH1 mutations result in production of the onco-metabolite 2HG, contributing to the formation and malignant progression of gliomas tumoral somatic mutation   --low   downregulated in late-stage bladder cancers tumoral somatic mutation     loss of function homozygous G367A mutation in a case of anaplastic thyroid cancer resulting in a decreased enzymatic activity tumoral somatic mutation       heterozygous mutations occur in the majority of grade II and grade III gliomas and secondary glioblastomas tumoral somatic mutation       IDH1R132 may significantly add information regarding characterization and prognostication in acute myeloid leukemia tumoral somatic mutation       R132C substitution in enchondromatosis, Ollier disease and Maffucci disease ( tumoral somatic mutation       R132H substitution in enchondromatosis, Ollier and Mafucci type tumoral somatic mutation       in chondrosarcoma tumoral somatic mutation       in giant cell tumor of bone

Susceptibility

to familial early-onset generalised osteoarthritis

Variant & Polymorphism SNP	increasing the risk of familial early-onset generalised osteoarthritis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism amino acids   inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients cancer endocrine thyroid potential tumorigenic role of IDH1 that could be a new therapeutic target for thyroid cancers

ANIMAL & CELL MODELS