Summary
Performance
Immunogen
Application
Background
This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010],disease:A chromosomal aberration involving NR4A3 is a cause of a form of extraskeletal myxoid chondrosarcomas (EMC). Translocation t(9;17)(q22;q11) with TAF2N.,disease:A chromosomal aberration involving NR4A3 is a cause of Ewing sarcoma [MIM:133450]. Translocation t(9;22)(q22-31;q11-12) with EWS.,function:Binds to the B1A response-element.,similarity:Belongs to the nuclear hormone receptor family.,similarity:Belongs to the nuclear hormone receptor family. NR4 subfamily.,similarity:Contains 1 nuclear receptor DNA-binding domain.,tissue specificity:High expression of isoform alpha in skeletal muscle. High expression of isoform beta in skeletal muscle and low expression in fetal brain and placenta.,
Research Area
