基因注释：KCNJ13
官方信息
官方名称：potassium inwardly rectifying channel subfamily J member 13
功能摘要：This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010].
关联疾病
该基因暂无关联疾病记录