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Double Homeobox 4 Protein (DUX4)

Target: DUX4
Molecular classification: Transcription factor, Homeodomain protein

Overview

Double homeobox 4 protein (DUX4) is a transcription factor that plays a crucial role in early embryonic development. Its aberrant expression in muscle tissue is the primary cause of facioscapulohumeral muscular dystrophy (FSHD). DUX4 regulates gene expression through its two homeodomains and controls genes involved in muscle cell differentiation and function. In FSHD, DUX4's toxic gain-of-function disrupts normal muscle biology, making it a key therapeutic target.

Other names: DUX4 proteinDouble homeobox protein 4

Biological functions

Transcriptional regulationRegulation of gene expressionPre-implantation embryonic development regulationSmall RNA controlAnti-myogenic activity

Disease associations

Facioscapulohumeral muscular dystrophy (FSHD)

Safety considerations

Off-target effects on developmental pathwaysPotential for immune response

Biomarkers

DUX4 mRNA levelsDUX4 protein levelsExpression of DUX4 target genes

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