HOXD8 - homeobox D8 Gene

中文名称：同源框 D8

种属: Homo sapiens

同用名: HOX4; HOX4E; HOX5.4

关于 HOXD8

功能概要

该基因属于同源盒基因家族。同源框基因编码一个高度保守的转录因子家族，在所有多细胞生物的形态发生中起着重要作用。哺乳动物拥有 4 个相似的同源盒基因簇 HOXA、HOXB、HOXC 和 HOXD，分别位于不同的染色体上，由 9～11 个串联排列的基因组成。该基因是位于 2 号染色体簇中的几个同源框 HOXD 基因之一。删除整个 HOXD 基因簇或该簇 5' 端的缺失与严重的肢体和生殖器异常有关。除了在胚胎发生过程中产生影响外，这种特殊基因还可能在成人泌尿生殖道功能中发挥作用。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 12 月]

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. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]