PJA1 - praja ring finger ubiquitin ligase 1 Gene

中文名称：praja 无名指泛素连接酶 1

种属: Homo sapiens

同用名: RNF70; PRAJA1

关于 PJA1

功能概要

该基因编码一种具有 E2 依赖性 E3 泛素蛋白连接酶活性的酶。这种酶属于一类包含无名指基序的泛素连接酶，它可以与 E2 泛素结合酶 UbcH5B 相互作用。该基因位于 X 染色体的一个区域，该区域与多种 X 连锁认知障碍相关，并且还被发现是与颅额鼻综合征相关的连续基因缺失的一部分，尽管与任何疾病的直接联系尚未确定被证明。可变剪接导致多个转录本变体。[RefSeq 提供，2010 年 5 月]

This gene encodes an Enzyme that has E2-dependent E3 ubiquitin-protein Ligase activity. This Enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating Enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]