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- Table of Contents
Facts about Double homeobox protein 4.
.
Human | |
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Gene Name: | DUX4 |
Uniprot: | Q9UBX2 |
Entrez: | 100288687 |
Belongs to: |
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paired homeobox family |
double homeobox 4; double homeobox protein 10; double homeobox protein 4; double homeobox protein 4/10; double homeobox protein DUX10; DUX10; DUX4; DUX4L1
Mass (kDA):
44.94 kDA
Human | |
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Location: | 4q35.2 |
Sequence: | 4; NC_000004.12 (190173774..190185911) |
Does not seem to be expressed in normal muscle, but is detected in muscle of individuals with FSHD, and also in testis (at protein level) (PubMed:21060811). Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells.
[Isoform 1]: Nucleus. Actively transported through the nuclear pore complex (NPC).; [Isoform 2]: Nucleus.
PMID: 10433963 by Gabrieels J., et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
PMID: 21060811 by Snider L., et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.