Inward rectifier potassium channel 13
The KCNJ13 gene encodes a retina-specific potassium channel. Mutations cause autosomal recessive Leber congenital amaurosis type 16.
Genetests:
Related Diseases:
References:
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Ghamari-Langroudi M et al. (2015) G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.
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Sergouniotis PI et al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
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Khan AO et al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
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Pattnaik BR et al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
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Krapivinsky G et al. (1998) A novel inward rectifier K+ channel with unique pore properties.
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Partiseti M et al. (1998) Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine.
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Derst C et al. (1998) Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
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Hejtmancik JF et al. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
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Zhang W et al. (2013) Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.
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Zhong H et al. (2015) CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
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NCBI article
NCBI 3769
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OMIM.ORG article
Omim 603208
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Orphanet article
Orphanet ID 159740
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Wikipedia article
Wikipedia EN (KCNJ13)
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Update: Aug. 14, 2020