HOXD10 Antibody – Goat Polyclonal

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. [provided by RefSeq, Jul 2008]

HOXD10: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Defects in HOXD10 are a cause of congenital vertical talus (CVT); 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. Belongs to the Abd-B homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 2q31.1

Cellular Component: nucleus

Molecular Function: chromatin binding; sequence-specific DNA binding; transcription factor activity

Biological Process: adult locomotory behavior; anterior/posterior pattern formation; embryonic limb morphogenesis; embryonic skeletal morphogenesis; forelimb morphogenesis; hindlimb morphogenesis; neuromuscular process; peripheral nervous system neuron development; positive regulation of transcription from RNA polymerase II promoter; proximal/distal pattern formation; single fertilization; skeletal muscle development; spinal cord motor neuron cell fate specification; transcription, DNA-dependent

Disease: Vertical Talus, Congenital