菜单 基因医生

这个基因编码p53转录因子家族的一个成员。p53家族蛋白的功能结构域包括n端反式激活结构域、中心dna结合结构域和寡聚结构域。该基因的选择性剪接和选择性启动子的使用导致编码不同亚型的多个转录变体，这些亚型的功能特性不同。这些亚型在皮肤发育和维护、成体干/祖细胞调节、心脏发育和早衰过程中发挥作用。一些亚型已经被发现通过消除遭受dna损伤的卵母细胞或睾丸生殖细胞来保护生殖系。该基因突变与外胚层发育不良、唇腭裂综合征3（EEC3）、裂手/足畸形4（SHFM4）、强直性睑外胚层缺损、唇腭裂、成人综合征（肢端皮肤甲泪腺牙）、四肢乳腺综合征、Rap-Hodgkin综合征（RHS）和口面部裂8有关。[由RefSeq提供，2016年8月]
This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]