KLHL12 - kelch like family member 12 Gene

中文名称：kelch 样家族成员 12

种属: Homo sapiens

同用名: DKIR; C3IP1

关于 KLHL12

功能概要

该基因编码 KLHL (Kelch 样) 蛋白质家族的成员。这种蛋白质已被确定为自身免疫性疾病干燥综合征的自身抗原，以及原发性胆汁性肝硬化的潜在生物标志物。该蛋白可作为 Cullin-3 泛素连接酶复合物的底物衔接子，促进底物特异性泛素化。这种复合物的泛素化已被证明可以调节 Wnt 信号通路以及 COPII 囊泡外壳大小。已在 22 号染色体上鉴定出一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 12 月]

This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin Ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]