LOINC
Version 2.73

LP432138-8IDH1 gene exon 4Active

Description

LP432138-8   IDH1 gene exon 4
The IDH1 (isocitrate dehydrogenase 1, cytosolic) gene [HGNC Gene ID:5382] is located on chromosome 2 at 2q34. The IDH1 gene encodes the isocitrate dehydrogenase 1 enzyme, which is primarily found in cytoplasm of cells as well as in peroxisomes. Mutations in the IDH1 gene are associated with various conditions, including Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, gliomas, and chondrosarcomas. The mutations associated with Maffucci syndrome, Ollier disease, and other cancer-related conditions are somatic gain-of-function mutations in which the enzyme takes on a new, abnormal function.[MedlinePlus Gene:IDH1] Source: Regenstrief LOINC

Basic Part Properties

Name
IDH1 gene exon 4
Type
Component
Created On
2022-02-22
Construct for LOINC Short Name
IDH1 exon 4

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