Gene Symbol | KCNJ13 |
Entrez Gene ID | 3769 |
Full Name | potassium voltage-gated channel subfamily J member 13 |
Synonyms | KIR1.4,KIR7.1,LCA16,SVD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Snowflake vitreoretinal degeneration, 193230 (3); Leber congenital amaurosis 16, 614186 (3) |