Paired box protein Pax-7 is a protein

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...

 that in humans is encoded by the PAX7 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...

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Function

Pax-7 plays a role in neural crest

Neural crest

Neural crest cells are a transient, multipotent, migratory cell population unique to vertebrates that gives rise to a diverse cell lineage including melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia....

 development and gastrulation

Gastrulation

Gastrulation is a phase early in the embryonic development of most animals, during which the single-layered blastula is reorganized into a trilaminar structure known as the gastrula. These three germ layers are known as the ectoderm, mesoderm, and endoderm.Gastrulation takes place after cleavage...

, and it is an important factor in the expression of neural crest markers such as Slug

SNAI2

Zinc finger protein SNAI2 is a protein that in humans is encoded by the SNAI2 gene.-Further reading:...

, Sox9

SOX9

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.- Function :SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins...

, Sox10

SOX10

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene....

 and HNK-1

B3GAT1

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 is an enzyme that in humans is encoded by the B3GAT1 gene.In immunology, the CD57 antigen is a protein which is also called HNK1 or LEU7...

.. PAX7 is expressed in the palatal shelf of the maxilla

Maxilla

The maxilla is a fusion of two bones along the palatal fissure that form the upper jaw. This is similar to the mandible , which is also a fusion of two halves at the mental symphysis. Sometimes The maxilla (plural: maxillae) is a fusion of two bones along the palatal fissure that form the upper...

, Meckel's cartilage

Meckel's cartilage

The cartilaginous bar of the mandibular arch is formed by what are known as Meckel’s cartilages also known as Meckelian cartilages; above this the incus and malleus are developed....

, mesencephalon, nasal cavity, nasal epithelium, nasal capsule and pons

Pons

The pons is a structure located on the brain stem, named after the Latin word for "bridge" or the 16th-century Italian anatomist and surgeon Costanzo Varolio . It is superior to the medulla oblongata, inferior to the midbrain, and ventral to the cerebellum. In humans and other bipeds this means it...

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Clinical significance

Pax proteins play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain

Fork head domain

The fork head domain is a type of protein domain which is often found in transcription factors and whose purpose is to bind DNA.- Function :...

 family member has been associated with alveolar rhabdomyosarcoma

Alveolar rhabdomyosarcoma

Alveolar rhabdomyosarcoma is a type of rhabdomyosarcoma characterized by its appearance, which is similar to the alveoli of the lungs.It can be associated with a fusion protein between PAX3 and FKHR ....

. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown. Animal studies show that mutant mice have malformation of maxilla and the nose.