该基因编码kelch样蛋白(klhl)家族的一个成员,参与b淋巴细胞抗原受体信号转导和生发中心b细胞成熟。编码的蛋白质包含一个N-末端宽复合物、tramrack和bric a brac(BTB)结构域,该结构域促进蛋白质结合和二聚,一个BTB和C-末端kelch(back)结构域,以及六个C-末端kelch重复结构域。这种基因的自然突变与慢性淋巴细胞白血病有关。选择性剪接导致多个转录变体。[由RefSeq提供,2017年2月]
This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

基因名:KLHL6
别名:
基因ID:89857
Chromosome:
(GRCh37)
3 Start: 183205319 End: 183273499 Strand: 
信号通路: 免疫相关 
KLHL6 基因突变与药物

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