Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

PDGFRA

Gene Alias

CD140A, MGC74795, PDGFR2, Rhe-PDGFRA

Gene Description

platelet-derived growth factor receptor, alpha polypeptide

Omim ID

Gene Ontology

Gene Summary

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 in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. [provided by RefSeq

Other Designations

FIP1L1/PDGFRA fusion protein|platelet-derived growth factor receptor alpha|rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein

Entrez GeneID

Gene Name

FIP1L1

Gene Alias

DKFZp586K0717, FLJ33619, Rhe

Gene Description

FIP1 like 1 (S. cerevisiae)

Omim ID

Gene Ontology

Gene Summary

This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq

Other Designations

FIP1 like 1|rearranged in hypereosinophilia