This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5 end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined.
HOXD4; homeobox D4; homeo box D4 , HOX4, HOX4B; homeobox protein Hox-D4; HHO.C13; homeo box D4; Homeobox protein HHO.C13; Homeobox protein Hox-4B; Homeobox protein Hox-5.1; Hox-4.2; Hox-4.2, mouse, homolog of homeo box X; HOX-5.1; HOX4; HOX4B; HXD4_HUMAN; Chox-a; homeobox protein Hox-A