DUX4L6

GENE INFORMATION

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Gene name

DUX4L6

Synonyms

Description

double homeobox 4 like 6 (HGNC Symbol)

Entrez gene summary

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro expression experiments indicate that the ORF is transcribed. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, May 2013]

Chromosome

4 (Chromosome progress)

Cytoband

q35.2

Chromosome location (bp)

190995380 - 190997190

Ensembl

ENSG00000258697 (version 73.37)

Entrez gene

22947

UniProt

P0CJ89 (UniProt - Inferred from homology)

neXtProt

NX_P0CJ89

Antibodypedia

DUX4L6 antibodies
 

PROTEIN VIEW

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DUX4L6-001
 
DUX4L6-002
 
DUX4L6-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DUX4L6-001 ENSP00000451087
ENST00000553722
P0CJ89
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Show » Show » 424 44.9 No 0
DUX4L6-002 ENSP00000473969
ENST00000605381
G3V309
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Show » Show » 163 18.7 No 0
DUX4L6-201 ENSP00000451253
ENST00000555191
F5GZ66
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Show » Show » 485 51.1 Yes 0