104292-8
PDGFRA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP94848-6 PDGFRA gene
The PDGFRA gene (platelet-derived growth factor receptor, alpha polypeptide) [HGNC Gene ID:8803] is located on chromosome 4q12. Over 400 unique mutations have been found in the PDGFRA gene.[COSMIC: PDGFRA] This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] [NCBI Gene ID:5156]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PDGFRA gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- PDGFRA Mut Tested Bld/T
- Display Name
- PDGFRA gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- PDGFRA gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
it-IT | Italian (Italy) | PDGFRA, gene, mutazioni testate per: Synonyms: Gene PDGFRA Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | PDGFRA-gen geteste mutaties: Synonyms: molgen |
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