LP228449-7
FLT3 gene internal tandem duplication
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Description
The FLT3 gene (fms-related tyrosine kinase 3) [HGNC Gene ID:3765] is located on chromosome 13q12. This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015] [NCBI Gene ID:2322] FLT3 mutations occur in approximately 1/3 of patients with AML. About 70% are internal tandem duplications, and the rest are due to variants in the tyrosine kinase domain of FLT3, primarily at Asp835 (D835). PMID: 17124058 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- FLT3 gene internal tandem duplication
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-09-13
- Construct for LOINC Short Name
- FLT3 gene internal tandem duplication
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