Description
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 Wilm s 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