KCNJ13 Antibody

1. Results confirm earlier findings that the MC4R-Kir7.1 signaling is independent of Gs-AC-cAMP signaling pathway. Furthermore, these data suggest that a noncanonical GPCR signaling pathway may be essential for this interaction. PMID: 29058194
2. The activated oxytocin receptor was able to inhibit the Kir7.1 channel, an important mediator of sub retinal waste transport and K(+) homeostasis. PMID: 28603013
3. KCNJ13 mutations are responsible for early-onset retinal dystrophy, featuring remarkable clumpy pigment deposits at the level of the retinal pigment epithelium, suggesting dysfunction and disorganization of this tissue. PMID: 27203561
4. Kir7.1 mutations are associated with vision disorders to include novel insights into the molecular mechanism of disease pathobiology in Leber Congenital Amaurosis. PMID: 25921210
5. Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations. PMID: 25475713
6. Kir7.1 regulates the transition from quiescence to contractions in the pregnant uterus. PMID: 25056913
7. Kir7.1, R162W mutant showed a reduction of IKir7.1 and positive shift in '0' current potential. PMID: 23977131
8. Kir7.1 expression was found in 100% of choroid plexus tumors and was absent in endolymphatic sac tumors. PMID: 22706862
9. A homozygous nonsense mutation was found in the potassium channel subunit gene KCNJ13 that caused leber congenital amaurosis. PMID: 21763485
10. 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. PMID: 18035352
11. 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. PMID: 18094146
12. 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. PMID: 18179896
13. This study demonstrates the dual regulation of Kir7.1 channel function by PKA and PKC. PMID: 18976636

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HGNC: 6259

OMIM: 193230

KEGG: hsa:3769

STRING: 9606.ENSP00000233826

UniGene: Hs.467338