PAX3
Encyclopedia
PAX3 is a gene that belongs to the paired box
(PAX) family of transcription factor
s. This gene was formerly known as splotch. PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome
types 1 and 3
. 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 myoblast
s are derived from dermatomyotome of paraxial mesoderm.
Alternative splicing
results in transcripts encoding isoforms with different C-termini.
is often found alveolar type of rhabdomyosarcoma
, a kind of cancer arisen from striated muscle cells. Translocation between chromosomes 2 & 13 produce fusion protein PAX3/FKHR which serves as a tumor marker in this type of RMS.Also in ARMS expressing PAX3/FKHR increased risk of metastasis to bone marrow and hence increased rate of failure and death were seen.
with MEOX1
, MEOX2
and SOX10
as well as phosphatidylcholine transfer protein
(PCTP).
Pax genes
Paired box 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) family of transcription factor
Transcription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
s. This gene was formerly known as splotch. PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome
Waardenburg syndrome
Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
types 1 and 3
. It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm
Paraxial mesoderm
Paraxial mesoderm is the area of mesoderm that forms just lateral to the neural tube on both sides.It differentiates rostrally into somatomeres and caudally into somites.It gives rise to the somitomeres/somites and mesoderm of the branchial arches....
which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblast
Myoblast
A myoblast is a type of embryonic progenitor cell that gives rise to muscle cells .The muscle cells can be skeletal muscle, smooth muscle, and cardiac muscle....
s are derived from dermatomyotome of paraxial mesoderm.
Alternative splicing
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...
results in transcripts encoding isoforms with different C-termini.
Role in rhabdomyosarcoma
A PAX3/FKHR fusion geneFusion gene
A fusion gene is a hybrid gene formed from two previously separate genes. It can occur as the result of a translocation, interstitial deletion, or chromosomal inversion...
is often found alveolar type of rhabdomyosarcoma
Rhabdomyosarcoma
A rhabdomyosarcoma is a type of cancer, specifically a sarcoma , in which the cancer cells are thought to arise from skeletal muscle progenitors. It can also be found attached to muscle tissue, wrapped around intestines, or in any anatomic location...
, a kind of cancer arisen from striated muscle cells. Translocation between chromosomes 2 & 13 produce fusion protein PAX3/FKHR which serves as a tumor marker in this type of RMS.Also in ARMS expressing PAX3/FKHR increased risk of metastasis to bone marrow and hence increased rate of failure and death were seen.
Interactions
PAX3 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with MEOX1
MEOX1
Homeobox protein MOX-1 is a protein that in humans is encoded by the MEOX1 gene.-Interactions:MEOX1 has been shown to interact with PAX1 and PAX3.-Further reading:...
, MEOX2
MEOX2
Homeobox protein MOX-2 is a protein that in humans is encoded by the MEOX2 gene.-Interactions:MEOX2 has been shown to interact with PAX1 and PAX3....
and SOX10
SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene....
as well as phosphatidylcholine transfer protein
Phosphatidylcholine transfer protein
Phosphatidylcholine transfer protein also known as StAR-related lipid transfer domain protein 2 is a specific intracellular phospholipid binding protein that can transfer phosphatidylcholine between different membranes in the cytosol....
(PCTP).