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Article

Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

American journal of physiology. Cell physiology - 1 Mar 2013

Zhang Wei, Zhang Xiaoming, Wang Hui, Sharma Anil K, Edwards Albert O, Hughes Bret A

Abstract excerpt

KCNJ13 encodes Kir7.1, an inwardly rectifying K(+) channel that is expressed in multiple ion-transporting epithelia. A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild retinal degeneration. We used the Xenopus laevis...

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Source

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Identifiers

PMID: 23255580
DOI: 10.1152/ajpcell.00363.2012
PMCID: PMC3602648

Genes

KCNJ13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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