KLHL6 - kelch like family member 6 Gene

中文名称：kelch 样家族成员 6

种属: Homo sapiens

关于 KLHL6

功能概要

该基因编码 kelch 样 (KLHL) 蛋白家族的成员，该蛋白参与 B 淋巴细胞抗原受体信号传导和生发中心 B 细胞成熟。编码的蛋白质包含一个 N 末端宽复合物、tramtrack 和 bric a brac (BTB) 结构域，可促进蛋白质结合和二聚化，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。该基因中自然发生的突变与慢性淋巴细胞白血病有关。可变剪接导致多个转录本变体。[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]