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Potassium inwardly-rectifying channel, subfamily J, member 13

Kir7.1, KCNJ13
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.[provided by RefSeq, Feb 2010] (from NCBI)
Top mentioned proteins: LCa, CAN, HAD, V1a, ROD
Papers on Kir7.1
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Traboulsi et al., Portland, United States. In Hum Mutat, Jul 2015
Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA).
A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Bolz et al., Riyadh, Saudi Arabia. In Ophthalmic Genet, Mar 2015
PURPOSE: To document a distinct vitreo-retinal dystrophy with early-onset cataract as related to recessive KCNJ13 mutations.
Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel.
Sepúlveda et al., Valdivia, Chile. In Plos One, 2014
Kir7.1 is an inwardly rectifying K+ channel of the Kir superfamily encoded by the kcnj13 gene.
CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
Mardon et al., Houston, United States. In Sci Rep, 2014
Here, we utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought to cause Leber congenital amaurosis (LCA), an early-onset form of blindness.
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.
Hughes et al., Ann Arbor, United States. In Am J Physiol Cell Physiol, 2013
KCNJ13 encodes Kir7.1, an inwardly rectifying K(+) channel that is expressed in multiple ion-transporting epithelia.
Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice.
Nawshad et al., Lincoln, United States. In Bmc Genomics, 2012
Using these patterns, we identified 8 unique genes within TGFβ3-/- mice (Chrng, Foxc2, H19, Kcnj13, Lhx8, Meox2, Shh, and Six3), which may function as the primary contributors to the development of cleft palate in TGFβ3-/- mice.
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Webster et al., London, United Kingdom. In Am J Hum Genet, 2011
A homozygous nonsense mutation was found in the potassium channel subunit gene KCNJ13 that caused leber congenital amaurosis.
A systems level, functional genomics analysis of chronic epilepsy.
Engel et al., Los Angeles, United States. In Plos One, 2010
Using differential expression analysis, we identified several hundred expression changes in chronic epilepsy, including candidate genes associated with epileptogenicity such as Bdnf and Kcnj13.
Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C.
Schwenger et al., Heidelberg, Germany. In Biochem Biophys Res Commun, 2009
This study demonstrates the dual regulation of Kir7.1 channel function by PKA and PKC.
Clinical features of the congenital vitreoretinopathies.
Edwards, Rochester, United States. In Eye (lond), 2008
Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13).
Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy.
Rosenow et al., Marburg an der Lahn, Germany. In Epileptic Disord, 2008
Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out.
Modulation of the Kir7.1 potassium channel by extracellular and intracellular pH.
Swaminathan et al., Ann Arbor, United States. In Am J Physiol Cell Physiol, 2008
Kir7.1 channels are modulated by intracellular protons by diverse mechanisms; H26 is important for channel activation at physiological pH(i) and it influences an unidentified proton-induced inhibitory mechanism.
Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium.
Hughes et al., Ann Arbor, United States. In Exp Eye Res, 2008
This study confirms the expression of Kir7.1 in human RPE, identifies a Kir7.1 splice variant resulting in predicted changes in protein sequence, and indicates that there is no functional interaction between this splice variant and full-length Kir7.1.
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
Edwards et al., Bethesda, United States. In Am J Hum Genet, 2008
These results indicate that the KCNJ13 R162W mutation can cause Snowflake vitreoretinal degeneration and further show that vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous.
Functional diversification of kir7.1 in cichlids accelerated by gene duplication.
Okada et al., Tokyo, Japan. In Gene, 2007
Mutation in the inward rectifier potassium channel gene, kir7.1, was previously identified as being responsible for the broader stripe zebrafish skin pattern mutant, jaguar/obelix.
Potassium channel gene expression in the rat cochlear nucleus.
Popper et al., Milwaukee, United States. In Hear Res, 2007
In contrast, Kcnj13 had an approximate 10-fold higher expression in AVCN and PVCN than in DCN.
Leber Congenital Amaurosis
Beattie et al., Seattle, United States. In Unknown Journal, 2004
Pathogenic variants in 17 genes are known to cause LCA: GUCY2D (locus name: LCA1), RPE65 (LCA2), SPATA7 (LCA3), AIPL1 (LCA4), LCA5 (LCA5), RPGRIP1 (LCA6), CRX (LCA7), CRB1 (LCA8), NMNAT1 (LCA9), CEP290 (LCA10), IMPDH1 (LCA11), RD3 (LCA12), RDH12 (LCA13), LRAT (LCA14), TULP1 (LCA15),KCNJ13 (LCA16), and IQCB1.
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