HOXD13

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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]

本基因隶属于同源盒基因家族。同源盒基因编码一组高度保守的转录因子，在所有多细胞生物的形态发生过程中扮演着至关重要的角色。哺乳动物具有四个相似的homeobox基因簇，即HOXA、HOXB、HOXC和HOXD，分别位于不同的染色体上，由9至11个基因串联排列而成。该基因是位于第2号染色体上基因簇中的数个homeobox HOXD基因之一。删除该基因簇的整个区域或其5'端与严重的肢体和生殖异常相关。该基因的突变会导致并指的发生。[由RefSeq提供，2008年7月]