NELFA - negative elongation factor complex member A Gene

中文名称：负伸长因子复合体成员 A

种属: Homo sapiens

同用名: WHSC2; NELF-A; P/OKcl.15

关于 NELFA

功能概要

该基因普遍表达，在胎儿组织中表达水平高于成人组织。它编码的蛋白质与小鼠蛋白质具有 93% 的序列同一性。 Wolf-Hirschhorn 综合征 (WHS) 是一种与 4 号染色体远端短臂半合子缺失相关的畸形综合征。该基因定位于 165 kb WHS 关键区域，可能在 WHS 或 Pitt 的表型中发挥作用-罗杰斯-丹克斯综合症。发现所编码的蛋白质能够与 HLA-A2 限制性和肿瘤特异性细胞毒性 T 淋巴细胞发生反应，表明可用于大量癌症患者的特异性免疫治疗。该蛋白质还被证明是参与 RNA 聚合酶 II 转录延伸调节的 NELF (负延伸因子) 蛋白质复合物的成员。[RefSeq 提供，2008 年 7 月]

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of Cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]