一种常染色体隐性遗传的青少年肌萎缩侧索硬化症最初被定位到包含该基因的2号染色体区域。编码的蛋白质包含一个钙依赖性膜，靶向C2结构域。这个结构域通常存在于参与膜转运和信号转导的蛋白质中。[由RefSeq提供，2016年6月]
An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]