Short stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, 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 SHOX2 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

SHOX2 is a member of the 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 :...

 family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA-binding domain

DNA-binding domain

A DNA-binding domain is an independently folded protein domain that contains at least one motif that recognizes double- or single-stranded DNA. A DBD can recognize a specific DNA sequence or have a general affinity to DNA...

. Homeobox proteins have been characterized extensively as transcriptional regulators involved in pattern formation

Pattern formation

The science of pattern formation deals with the visible, orderly outcomes of self-organisation and the common principles behind similar patterns....

 in both invertebrate and vertebrate species.

Clinical significance

Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome

Turner syndrome

Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...

 patients. This gene is considered to be a candidate gene for Cornelia de Lange Syndrome

Cornelia de Lange Syndrome

Cornelia de Lange Syndrome often termed as Bushy Syndrome is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.! Appx...

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