DPPA4 - developmental pluripotency associated 4 Gene

中文名称：发育多能性相关 4

种属: Homo sapiens

同用名: 2410091M23Rik

关于 DPPA4

功能概要

该基因编码的核因子参与干细胞多能性的维持，对胚胎发生至关重要。编码的蛋白质具有支架附着因子 A/B、腺泡和 PIAS (SAP) 结构域，可结合 DNA 并被认为可以修饰染色质。同源基因纯合敲除的小鼠在胚胎发育后期或出生后数小时内死亡。基因敲除胚胎在胚胎发育第 18.5 天时大小正常，但表现出骨骼和肺组织异常。该基因发生突变后，在胚胎癌、多能生殖细胞肿瘤和其他癌症中高度表达，并被认为在肿瘤进展中发挥重要作用。已鉴定出该基因的多个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and Other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]