DUX4L1 (double homeobox 4 like 1 (pseudogene))

2014-06-01  

Identity

HGNC
LOCATION
4q35.2
LOCUSID
ALIAS
DUX10,DUX4
FUSION GENES

Other Information

Locus ID:

NCBI: 22947
HGNC: 3082
Ensembl: ENSG00000280757

Variants:

dbSNP: 22947
ClinVar: 22947
TCGA: ENSG00000280757
COSMIC: DUX4L1

RNA/Proteins

References

Pubmed IDYearTitleCitations
207245832010A unifying genetic model for facioscapulohumeral muscular dystrophy.254
210608112010Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.187
222093282012DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.165
179840562007DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.155
175887592007The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.150
188331932008An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies.144
193592752009RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.109
227986232012Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.76
220532142011The FSHD atrophic myotube phenotype is caused by DUX4 expression.66
242780312013DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.58

Citation

Dessen P

DUX4L1 (double homeobox 4 like 1 (pseudogene))

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54029/dux4l1