PAX2
Encyclopedia
Paired box gene 2, also known as PAX2 is a protein
which in humans is encoded by the PAX2 gene
.
gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor
gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1
.
s and renal
hypoplasia
. Alternative splicing
of this gene results in multiple transcript variants.
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 PAX2 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...
.
Function
PAX2 encodes paired boxPax 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...
gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this 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...
gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1
WT1
Wilms tumor protein is a protein that in humans is encoded by the WT1 gene.- Function :This gene encodes a transcription factor that contains four zinc finger motifs at the C-terminus and a proline / glutamine-rich DNA-binding domain at the N-terminus...
.
Clinical significance
Mutations within PAX2 have been shown to result in optic nerve colobomaColoboma
A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
s and renal
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
hypoplasia
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
. 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...
of this gene results in multiple transcript variants.