Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.
It is is a gene that plays a role in embryonic development but is normally switched off in adult tissues.
It belongs to a family of genes called homeobox genes, which are involved in regulating the development and maturation of tissues and organs.
The exact mechanism by which DUX4 causes muscle damage in FSHD is still being actively studied.
It is believed that the expression of DUX4 in muscle cells disrupts normal cellular processes, leading to muscle fiber degeneration and inflammation.
Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD).
This abnormal expression leads to muscle degeneration and weakness, primarily affecting the face, shoulder blades, and upper arms.
This gene is located within a D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4q35.
DUX4 protein is 424 amino acids long.
DUX4 (Double homeobox 4) is a gene that encodes a transcription factor protein.
Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy (FSHD).
It is primarily known for its involvement in the genetic disorder called facioscapulohumeral muscular dystrophy (FSHD).
FSHD is a progressive muscle-wasting condition characterized by weakness and atrophy of specific muscles, particularly in the face, shoulders, and upper arms.
In individuals with FSHD, there is a genetic abnormality that leads to the inappropriate expression of DUX4 in muscle cells.
Normally, DUX4 is only expressed during early embryonic development and is subsequently silenced in adult tissues.
However, in FSHD, the genetic mutation disrupts the normal silencing mechanisms, resulting in the reactivation of DUX4 in muscle cells.
Abnormal expression of DUX4 disrupts various cellular processes, including DNA damage response, gene regulation, and muscle cell differentiation.
This can lead to the death of muscle cells and the progressive muscle weakness observed in FSHD.
DUX4 protein a transcriptional activator of many genes.
DUX is normally expressed in the testes, thymus, and cleavage-stage embryos.
Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy (FSHD).
Overexpression of DUX4 due to translocations can cause B-cell leukemia.
A translocation that merges DUX4 with CIC can cause an aggressive type of sarcoma.