Kir7.1 Assay(s)

Background Information

Inwardly rectifying K⁺ channel expressed at high levels in retinal pigment epithelium (RPE), choroid plexus, and kidney. Maintains ionic and fluid homeostasis across the RPE basal membrane, supporting photoreceptor viability. KCNJ13 loss-of-function mutations cause Leber congenital amaurosis 16 (LCA16) and snowflake vitreoretinal degeneration (SVD), both rare autosomal recessive retinal dystrophies with childhood onset.

Family: Ion Channel
Protein Name: Kir7.1
Gene Name: hKCNJ13

Organism : Human
Therapeutic Area: Rare-disease

Assay Information

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Testing Information

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