CENPI - centromere protein I Gene

中文名称：着丝粒蛋白 I

种属: Homo sapiens

同用名: LRPR1; CENP-I; FSHPRH1

关于 CENPI

功能概要

该基因编码的着丝粒蛋白是 CENPA-NAC (核小体相关) 复合物的组成部分。这种复合物对于准确的染色体排列和分离至关重要，它确保正确的有丝分裂进程。这种蛋白质调节产生纺锤体检查点信号所需的动粒相关蛋白的募集。该基因的产物参与性腺组织对促卵泡激素的反应。该基因的突变可能与人类性腺发育和配子发生的 X 连锁疾病有关。交替剪接导致多个转录本变体。在 13 号染色体上发现了该基因的假基因。[RefSeq 提供，2016 年 1 月]

This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]