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PUF60 encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. Zusätzlich bieten wir Ihnen PUF60 Antikörper (133) und PUF60 Kits (1) und viele weitere Produktgruppen zu diesem Protein an.
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Human PUF60 Protein expressed in HEK-293 Cells - ABIN2730160
Fiorentino, Presby, Baer, Petri, Rieger, Soloski, Rosen, Mammen, Christopher-Stine, Casciola-Rosen: PUF60: a prominent new target of the autoimmune response in dermatomyositis and Sjögren's syndrome. in Annals of the rheumatic diseases 2016
The present report describes a de novo missense mutation in PUF60, detected in a boy with multiple congenital anomalies.
PUF60 auto-antibodies are detected in the sera of early-stage colon cancer patients and level decreases after surgery.
These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion
Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies.
Mutations in PUF60 gene is associated with idiopathic hypereosinophilic syndrome.
Concomitant over expression of far upstream element (FUSE) binding protein (FBP) interacting repressor (FIR) and its splice variants induce migration and invasion of non-small cell lung cancer cells.
Overexpression of far upstream element (FUSE) binding protein (FBP)-interacting repressor (FIR) supports growth of hepatocellular carcinoma.
High FBP-interacting repressor expression is associated with hepatocellular carcinoma.
The interaction between SAP155 and FIR/FIRDeltaexon2 not only integrates cell-cycle progression and c-Myc transcription by modifying P27 and P89 expression.
Haploinsufficiency of each of SCRIB or PUF60 contribute uniquely to specific endophenotypes (e.g., coloboma, heart defects), and binary interaction potentially exacerbates other aspects of the clinical pathology of individuals with 8q24.3 deletion.
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
60 kDa poly(U)-binding-splicing factor
, fuse-binding protein-interacting repressor
, poly(U)-binding-splicing factor PUF60
, FBP interacting repressor
, RNA-binding protein Siah-BP
, Ro ribonucleoprotein-binding protein 1
, poly-U binding splicing factor 60K
, pyrimidine tract binding splicing factor
, siah binding protein 1; FBP interacting repressor; pyrimidine tract binding splicing factor; Ro ribonucleoprotein-binding protein 1
, siah-binding protein 1
, FUSE-binding protein-interacting repressor
, Siah binding protein 1