Profil protéine

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.

Alternative names and synonyms associated with Short Stature Homeobox 2 (SHOX2)

• short stature homeobox 2 (SHOX2) anticorps
• short stature homeobox 2 (shox2) anticorps
• short stature homeobox 2 (Shox2) anticorps

• 6330543G17Rik anticorps
• OG12 anticorps
• Og12x anticorps
• ogi2x anticorps
• Prx3 anticorps
• Afficher tous les alias de synonymes
• SHOT anticorps
• SHOX2 anticorps
• zgc:65884 anticorps
• zgc:77344 anticorps

Protein level used designations for SHOX2

short stature homeobox 2 , SHOX homologous gene on chromosome 3 , homeobox protein Og12X , paired-related homeobox protein SHOT , short stature homeobox protein 2 , OG-12 , paired family homeodomain protein Prx3