Proteomics is the large-scale study of proteins, particularly their structures and functions. Proteins are vital parts of living organisms, as they are the main components of the physiological metabolic pathways of cells. The term "proteomics" was coined to make an analogy with genomics, the study of the genes. The word "proteome" is a blend of "protein" and "genome". The proteome is the entire complement of proteins, including the modifications made to a particular set of proteins, produced by an organism or system. This will vary with time and distinct requirements, or stresses, that a cell or organism undergoes.
PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. It transcribes a 479 amino acid protein in humans.
Paired box (Pax) genes are a family of tissue specific transcription factors containing a paired domain and usually a partial or complete homeodomain. An octapeptide may also be present. Pax proteins are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such.
PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome. It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm.
Alternative splicing results in transcripts encoding isoforms with different C-termini.
A PAX3/FKHR fusion gene is often found in some forms of rhabdomyosarcoma, a kind of cancer arisen from striated muscle cells.
For More Information: Proteins
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