菜单 基因医生

WNT基因家族由编码分泌信号蛋白的结构相关基因组成这些蛋白与肿瘤发生和一些发育过程有关，包括在胚胎发生过程中调节细胞命运和模式。这个基因是wnt基因家族的一员。它在进化过程中非常保守，由该基因编码的蛋白质在氨基酸水平上与小鼠WNT1蛋白的同源性为98%。小鼠实验研究表明，Wnt1蛋白在中脑和小脑的诱导中发挥作用该基因最初被认为是joubert综合征的候选基因，joubert综合征是一种以小脑发育不全为主要特征的常染色体隐性遗传病。然而，进一步的研究表明，基因突变在Joubert综合征中可能没有显著作用这个基因与另一个家族成员wnt10b在染色体12q13区域聚集在一起。[由RefSeq提供，2008年7月]
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]