Introduction of KCNJ13
KCNJ13, also known as potassium inwardly-rectifying channel, subfamily J, member 13, is encoded by KCNJ13 gene. It is mainly expressed in small intestine, thyroid, kidney, and duodenum. Meanwhile, some studies have identified that 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. Recent studies have indicated that KCNJ13 is associated with various diseases, such as snowflake vitreoretinal degeneration and Leber congenital amaurosis 16.
|Basic Information of KCNJ13|
|Protein Name||Inward rectifier potassium channel 13|
|Aliases||KIR1.4, KIR7.1, LCA16|
|Organism||Homo sapiens (Human)|
Function of KCNJ13 Membrane Protein
KCNJ13, a member of potassium channel, inwardly rectifying subfamily J, has shown many functions. Kcnj13 expression in the retinal pigment epithelium (RPE) is essential for normal retinal electrophysiology, function, and survival. Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and Leber congenital amaurosis (LCA). KCNJ13 controls the microenvironment between the photoreceptors and the retinal pigment epithelium (RPE) and also contributes to the function of other organs, such as uterus and brain. It is documented that KCNJ13 mutations are significantly associated with the risk of early-onset retinal dystrophy.
Fig.1 Structure of voltage-gated potassium channel. (Daniel, 2016)
Application of KCNJ13 Membrane Protein in Literature
This article analyses the role of KCNJ13 in the retinal pigment epithelium where it causes photoreceptor degeneration. The data show that the expression of Kcnj13 in the retinal pigment epithelium (RPE) plays an important role in photoreceptor function and survival.
This article reveals the clinical features of a nystagmus patient who carry KCNJ13 mutations. These results indicate that its mutations are significantly associated with the risk of early-onset retinal dystrophy.
Authors in this group identify a novel nonsense mutation in the second exon of the KCNJ13 gene that leads to a premature stop codon which is associated with LCA16.
This article examines the pathogenic role of Kcnj13 in mutant mice using the CRISPR-Cas9 system, and then further analyses the function of KCNJ13 mutation in human. These results illustrate that KCNJ13 expression is required for retinal pigment epithelium cells to maintain photoreceptor survival.
This article reveals a novel missense mutation in KCNJ13 (c.359T > C; p.Ile120Thr), which is associated with nystagmus in Arabian female patients.
KCNJ13 Preparation Options
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