HOXD10

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.

Full Name

homeobox D10

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.

Biological Process

Adult locomotory behavior Source: Ensembl
Anterior/posterior pattern specification Source: Ensembl
Embryonic limb morphogenesis Source: Ensembl
Embryonic skeletal system morphogenesis Source: Ensembl
Forelimb morphogenesis Source: Ensembl
Hindlimb morphogenesis Source: Ensembl
Neuromuscular process Source: Ensembl
Peripheral nervous system neuron development Source: Ensembl
Proximal/distal pattern formation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Single fertilization Source: Ensembl
Skeletal muscle tissue development Source: Ensembl
Spinal cord motor neuron cell fate specification Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Vertical talus, congenital (CVT):
A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence.