SHOX2 Antibody – Mouse Monoclonal

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. [provided by RefSeq, Jul 2009]

SHOX2: 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. Belongs to the paired homeobox family. Bicoid subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 3q25.32

Cellular Component: nucleoplasm; nuclear membrane; mitochondrion

Molecular Function: sequence-specific DNA binding

Biological Process: embryonic forelimb morphogenesis; nervous system development; heart development; negative regulation of transcription from RNA polymerase II promoter; chondrocyte development; osteoblast differentiation; positive regulation of skeletal muscle fiber development; embryonic digestive tract morphogenesis; positive regulation of mesenchymal cell proliferation; positive regulation of smoothened signaling pathway; positive regulation of axonogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of chondrocyte differentiation; skeletal development