Property Summary

NCBI Gene PubMed Count 7
PubMed Score 68.55

Knowledge Summary

Patent

No data available

TINX Plot

AA Sequence

MALPTPSDSTLPAEARGRGRRRRLVWTPSQSEALRACFERNPYPGIATRERLAQAIGIPEPRVQIWFQNE      1 - 70
RSRQLRQHRRESRPWPGRRGPPEGRRKRTAVTGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQI     71 - 140
WFQNRRARHPGQGGRAPAQAGGLCSAAPGGGHPAPSWVAFAHTGAWGTGLPAPHVPCAPGALPQGAFVSQ    141 - 210
AARAAPALQPSQAAPAEGVSQPAPARGDFAYAAPAPPDGALSHPQAPRWPPHPGKSREDRDPQRDGLPGP    211 - 280
CAVAQPGPAQAGPQGQGVLAPPTSQGSPWWGWGRGPQVAGAAWEPQAGAAPPPQPAPPDASASARQGQMQ    281 - 350
GIPAPSQALQEPAPWSALPCGLLLDELLASPEFLQQAQPLLETEAPGELEASEEAASLEAPLSEEEYRAL    351 - 420
LEEL                                                                      421 - 424
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Text Mined References (8)

PMID Year Title
17984056 2007 DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
17668377 2007 Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.
17588759 2007 The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
11245978 2001 Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.
10433963 1999 Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
9736770 1998 Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements.
7739628 1995 Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.