LP94848-6
PDGFRA gene
Active
Description
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
Basic Part Properties
- Part Display Name
- PDGFRA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-05-19
- Construct for LOINC Short Name
- PDGFRA
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP94848-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | PDGFRA-gen |
| it-IT | Italian (Italy) | PDGFRA, gene Synonyms: Gene PDGFRA |
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