Search Thermo Fisher Scientific
DUX4 (also known as Double homeobox 4) is the leading candidate causative gene for facioscapulohumeral dystrophy (FSHD), a degenerative skeletal muscle disease and one of the most common muscular dystrophies. FSHD is caused by the deletion of a subset of D4Z4 macrosatellite repeats on chromosome 4. Each repeat contains a retrogene encoding the double-homeobox factor DUX4. DUX4 expression is epigenetically suppressed in differentiated tissues and the residual DUX4 transcripts are spliced to remove the carboxyterminal domain that has been associated with cell toxicity. In FSHD individuals, the expression of the full-length DUX4 transcript is not completely suppressed in skeletal muscle, and possibly other differentiated tissues, and results in a small percentage of cells expressing relatively abundant amounts of the full-length DUX4 mRNA and protein.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: double homeobox 4-like; Double homeobox protein 10; Double homeobox protein 4; double homeobox protein 4/10
基因别名: DUX10; DUX4; DUX4L
UniProt ID: (Human) Q9UBX2
Entrez Gene ID: (Human) 100288687
分子生物学功能:
homeodomain transcription factor