Short stature homeobox protein 2
Homeobox protein Og12X
Short name= OG-12
Paired family homeodomain protein Prx3
Store at -20°C, for extended storage, conserve at -20°C or -80°C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. 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 patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants.
May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation. May also have a role in heart development.
Paired homeobox family, Bicoid subfamily
Highly expressed in striated muscle followed by liver, kidney, testis, brain, heart, lung and spleen.