Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Inward rectifier potassium channel 13

The KCNJ13 gene encodes a retina-specific potassium channel. Mutations cause autosomal recessive Leber congenital amaurosis type 16.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 16
KCNJ13

References:

1.

Ghamari-Langroudi M et al. (2015) G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.

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2.

Sergouniotis PI et al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

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3.

Khan AO et al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

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4.

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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5.

Krapivinsky G et al. (1998) A novel inward rectifier K+ channel with unique pore properties.

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6.

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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7.

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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8.

Hejtmancik JF et al. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

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9.

Zhang W et al. (2013) Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

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10.

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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11.

NCBI article

NCBI 3769 [^]
12.

OMIM.ORG article

Omim 603208 [^]
13.

Orphanet article

Orphanet ID 159740 [^]
14.

Wikipedia article

Wikipedia EN (KCNJ13) [^]
Update: April 29, 2019