Entrez gene ID | | 3769 |
Official gene symbol | | KCNJ13 |
Full name | | potassium inwardly-rectifying channel, subfamily J, member 13 |
Aliases | | ,KIR1.4,KIR7.1,MGC33328,SVD, |
Gene 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. |
Location | | Chromosome: 2 Locus: 2q37 |
Gene position | | 233641275 - 233630512 Map Viewer |
Gene orientation | | minus |
Gene size | | 10764 bp |
Gene sequence |
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OMIM ID | | 603208 |