PDGFRA, i.e. platelet-derived growth factor receptor A, also termed PDGFRα, i.e. platelet-derived growth factor receptor α, or CD140a i.e. Cluster of Differentiation 140a, is a receptor located on the surface of a wide range of cell types. This receptor binds to certain isoforms of platelet-derived growth factors and thereby becomes active in stimulating cell signaling pathways that elicit responses such as cellular growth and differentiation. The receptor is critical for the

Oct 27, 2020 A 35-gene expression profile (GEP) test that classifies melanocytic lesions into categories (benign, intermediate-risk and malignant), has

Low score means that the gene is highly expressed in the condition. Max rank score in all spec XL PDGFRA BA consists of a green-labeled probe hybridizing proximal to the PDGFRA gene region at 4q12 and an orange-labeled probe hybridizing distal to the PDGFRA gene region at 4q12. Probe maps are created in accordance with the intended purpose of the product. The gene is formed by the fusion of fragments of two other genes called PDGFRA and FIP1L1. This fusion gene then produces a fusion protein which is made up of parts of both the PDGFRA and FIP1L1 proteins. The PDGFRA gene normally codes for a cell membrane receptor protein.

441. PDGFRA. Platelet Derived Growth Factor Receptor anti-CCP, CCP-antikroppar · Klinisk immunologi och transfusionsmedicin · CJD · Klinisk genetik och genomik · cKIT, PDGFRA · Klinisk genetik och genomik. Lungcancer – EGFR-, BRAF-, KRAS-, HER2-, ALK-mutationer.

Feature Type. protein coding gene.

Jul 6, 2018 The PDGFRA gene encodes the platelet-derived growth factor receptor alpha, a member of the type III tyrosine kinase receptor family, which

IgH. Lymfoma. Fusion genes. Sarcoma. 2, Gene Name, Exons, Gene Name, Exons 35, PDGFRA, 12, 14, 18 1, Case ID, Gene, Variant, Chromosome, Position, Ref allele, Alt allele, cfDNA Variant av PA Santos Silva · 2019 — Figure 4.1.1 Frequencies of mutations in the SAL elderly AML for each gene.

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] Official symbol: PDGFRA

Gastrointestinal stromal tumors (GIST) carrying the D842V activating mutation in the platelet-derived growth factor receptor alpha ( PDGFRA ) gene are a very rare subgroup of GIST (about 10%) known to be resistant to conventional tyrosine kinase inhibitors (TKIs) and to show an indolent behavio … PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) is a protein-coding gene. Diseases associated with PDGFRA include fibrosarcoma of bone , and hypereosinophilic syndrome . GO annotations related to this gene include platelet-derived growth factor receptor binding and protein homodimerization activity . 2018-07-23 This fusion gene is produced by an approximately 800-kilobase deletion on chromosome 4q12, with consequent fusion of the adjacent FIP1L1 and PDGFRA genes. The initial reports of the FIP1L1/PDGFRA fusion gene identified this abnormality in cases that had previously been diagnosed as hypereosinophilic syndrome, chronic eosinophilia leukemia or systemic mastocytosis with eosinophilia. The PDGFRA gene provides instructions for making a protein called platelet-derived growth factor receptor alpha (PDGFRA), which is part of a family of proteins called receptor tyrosine kinases (RTKs).

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. 1990-04-01 · The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). 1 Publication PDGFRA-associated chronic eosinophilic leukemia. A deletion of genetic material from chromosome 4 brings together part of the FIP1L1 gene and part of another gene called PDGFRA, creating the FIP1L1-PDGFRA fusion gene.
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The initial reports of the FIP1L1/PDGFRA fusion gene identified this abnormality in cases that had previously been diagnosed as hypereosinophilic syndrome, chronic eosinophilia leukemia or systemic mastocytosis with eosinophilia.

The gene is formed by the fusion of fragments of two other genes called PDGFRA and FIP1L1. This fusion gene then produces a fusion protein which is made up of parts of both the PDGFRA and FIP1L1 proteins. The PDGFRA gene normally codes for a cell membrane receptor protein. To be turned on the PDGFRA receptor normally needs to bind to another Up to 85% of GIST tumors contain mutations in one of two genes, PDGFRA and KIT. These mutations lead to the production of aberrant KIT and PDGFRA proteins that drive the cancer, explained Dr. Heinrich.
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7, Application, AssayType, Gene, AAMutation, TargetName, Validated. 8, MUT, ddPCR Probe, KRAS 394, MUT, ddPCR Probe, PDGFRA, p.D842V, PDGFRA

Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and ERK Signaling. The PDGFRA gene is associated with autosomal dominant GIST -plus syndrome (MedGen UID: 357402). PDGFRA/Pdgfra gene is regulated by at least seven first exons in human and mouse.