DUX4
Encyclopedia
Double homeobox, 4 also known as DUX4 is a protein
which in humans is encoded by the DUX4 gene
.
. 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 contains two homeobox
es; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed.
).
candidate gene that appears to have a toxic gain of function.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the DUX4 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Gene
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4qChromosome 4 (human)
125px|rightChromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs and represents between 6 and 6.5 percent of the total DNA in cells.Identifying genes on each chromosome is an active area...
. 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 contains two homeobox
Homeobox
A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of anatomical development in animals, fungi and plants.- Discovery :...
es; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed.
Function
The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1PITX1
Pituitary homeobox 1 is a protein that in humans is encoded by the PITX1 gene.-Interactions:PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.-Further reading:...
).
Clinical significance
DUX4 is a facioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy , which is also known as Landouzy-Dejerine, is a usually autosomal dominant inherited form of muscular dystrophy that initially affects the skeletal muscles of the face , scapula and upper arms...
candidate gene that appears to have a toxic gain of function.