HOXD10, HOX4D, HOX4E, Homeobox protein Hox-D10, Homeobox protein Hox-4D, Homeobox protein Hox-4E
This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilms tumor and congenital vertical talus (also known as rocker-bottom foot deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008],developmental stage:Expressed in the developing limb buds.,disease:Defects in HOXD10 are a cause of congenital vertical talus (CVT) [MIM:192950], also known as rocker-bottom foot deformity or congenital convex pes valgus. CVT is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity.,function:Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.,similarity:Belongs to the Abd-B homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Strongly expressed in the adult male and female urogenital tracts.,
