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 and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease.
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Protein Aliases: d10; homeo box 4D; homeo box D10; Homeobox protein Hox-4D; Homeobox protein Hox-4E; Homeobox protein Hox-D10; Hox-45
Gene Aliases: Hox-4.4; HOX4; HOX4D; HOX4E; HOXD10
UniProt ID: (Human) P28358
Entrez Gene ID: (Human) 3236
Molecular Function: homeodomain transcription factor