Aliases for SHOX Gene
External Ids for SHOX Gene
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SHOX Gene
SHOX (Short Stature Homeobox) is a Protein Coding gene. Diseases associated with SHOX include shox-related haploinsufficiency disorders and langer mesomelic dysplasia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot for SHOX Gene
Controls fundamental aspects of growth and development