POF1B - POF1B actin binding protein Gene

中文名称：POF1B 肌动蛋白结合蛋白

种属: Homo sapiens

同用名: POF; POF2B

关于 POF1B

功能概要

卵巢早衰 (POF) 的特征是 40 岁以下女性的原发性或继发性闭经。两个 POF 易感性区域称为“POF1”和“POF2”，已通过 X 常染色体易位的断点作图确定。 POF1 从 Xq21-qter 延伸而 POF2 从 Xq13.3 延伸到 Xq21.1。该基因 POF1B 位于 POF2 区域。该基因在小鼠产前卵巢中以痕量水平表达，在成年卵巢、人类和小鼠中几乎检测不到或不存在。该基因的表达仅限于上皮细胞，其在表皮、口咽和胃肠道中的表达最高。由该基因编码的蛋白质结合非肌肉肌动蛋白丝。该基因在卵巢早衰的病因学中可能发挥的作用仍有待确定。[RefSeq 提供，2010 年 1 月]

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]