HOXD10 gene

homeobox D10

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

From NCBI Gene:

  • Vertical talus, congenital

From UniProt:

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. [MIM:192950]

Cytogenetic Location: 2q31.1, which is the long (q) arm of chromosome 2 at position 31.1

Molecular Location: base pairs 176,116,764 to 176,119,942 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q31.1, which is the long (q) arm of chromosome 2 at position 31.1
  • Hox-4.4
  • HOX4
  • HOX4D
  • HOX4E