Version 2.80

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 Name
PDGFRA gene
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

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
zh-CN Chinese (China) PDGFRA 基因
el-GR Greek (Greece) Γονίδιο PDGFRA
Synonyms: Γονίδιο PDGFRA