Description
Product Characteristics:
The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. HoxD13 is a sequence-specific transcription factor that provides cells with specific positional identities on the anterior-posterior axis of developing mammals. Defects in HoxD13 are the cause of synpolydactyly (SPD). SPD is a limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. Defects in HoxD13 are also the cause of brachydactyly type D and type E.
Subcellular location: Nucleus
Synonyms: HOXD13, BDE, BDSD, Homeo box 4I, Homeo box D13, Homeo box protein Hox D13, Homeo box protein HoxD13, Homeobox 4I, Homeobox D13, Homeobox protein Hox D13, Homeobox protein Hox-D13, Homeobox protein HoxD13, Homeobox4I, HomeoboxD13, Hox 4I, HOX D13, Hox-4.8, Hox4I, HOXD 13, HoxD13, SPD, HXD13_HUMAN.
Target Information: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]