KCNJ13: Difference between revisions

KCNJ13
Symbol	KCNJ13
HGNC ID	6251
Alternative symbols	–
Entrez Gene	3769
OMIM	603208
RefSeq	NM_002242
UniProt	O60928
Chromosome	2q37
Locus supplementary data	–

Latest revision as of 20:20, 30 December 2024

KCNJ13 is a gene that encodes the protein known as inward rectifier potassium channel 13. This protein is part of the potassium channel family, which plays a crucial role in maintaining the membrane potential of cells.

Function[edit]

The KCNJ13 gene product is involved in the regulation of potassium ion flow into cells. It is particularly important in the retina, where it helps to maintain the ionic balance necessary for photoreceptor function. Mutations in this gene can lead to retinal dystrophy and other ocular disorders.

Clinical Significance[edit]

Mutations in the KCNJ13 gene have been associated with Leber congenital amaurosis (LCA), a severe retinal degenerative disease that leads to blindness at an early age. Studies have shown that these mutations disrupt the normal function of the potassium channel, leading to photoreceptor cell death.

Research[edit]

Ongoing research is focused on understanding the precise mechanisms by which KCNJ13 mutations lead to retinal degeneration. There is also interest in developing gene therapy approaches to correct these mutations and restore normal function to the affected cells.

References[edit]

External Links[edit]

@@ Line 1: / Line 1: @@
-'''KCNJ13''' is a gene that encodes the protein Kir7.1, a member of the [[Kir]] (Inwardly rectifying potassium channels) family. This protein plays a crucial role in maintaining the balance of [[potassium]] in cells and is involved in various physiological processes. Mutations in this gene have been associated with several medical conditions, including [[Leber congenital amaurosis]] and [[Snowflake vitreoretinal degeneration]].
+{{Infobox gene
+| name = KCNJ13
+| symbol = KCNJ13
+| HGNCid = 6251
+| OMIM = 603208
+| EntrezGene = 3769
+| RefSeq = NM_002242
+| UniProt = O60928
+| chromosome = 2
+| arm = q
+| band = 37
+}}
+'''KCNJ13''' is a gene that encodes the protein known as '''inward rectifier potassium channel 13'''. This protein is part of the [[potassium channel]] family, which plays a crucial role in maintaining the [[membrane potential]] of cells.
 == Function ==
-The KCNJ13 gene provides instructions for making a protein called Kir7.1. This protein forms a channel that controls the flow of potassium ions into cells. These channels are primarily found in the [[retina]] and the [[kidney]], where they play a vital role in maintaining the correct balance of ions and the overall [[homeostasis]] of the cell.
+The KCNJ13 gene product is involved in the regulation of [[potassium ion]] flow into cells. It is particularly important in the [[retina]], where it helps to maintain the [[ionic balance]] necessary for [[photoreceptor]] function. Mutations in this gene can lead to [[retinal dystrophy]] and other [[ocular disorders]].
-== Clinical significance ==
-Mutations in the KCNJ13 gene can lead to a variety of medical conditions. For example, a mutation in this gene has been identified as a cause of Leber congenital amaurosis, a severe type of [[eye disorder]] that primarily affects the retina. This condition is characterized by vision loss at birth or in the first few months of life, nystagmus, and deep-set eyes.
-Another condition associated with mutations in the KCNJ13 gene is Snowflake vitreoretinal degeneration. This is a rare, autosomal dominant [[genetic disorder]] characterized by a variety of ocular symptoms, including [[cataract]], retinal degeneration, and abnormal vitreous.
+== Clinical Significance ==
+Mutations in the KCNJ13 gene have been associated with [[Leber congenital amaurosis]] (LCA), a severe [[retinal degenerative disease]] that leads to [[blindness]] at an early age. Studies have shown that these mutations disrupt the normal function of the potassium channel, leading to [[photoreceptor cell]] death.
 == Research ==
-Research into the KCNJ13 gene and its associated conditions is ongoing. Understanding the function of this gene and how mutations affect it could lead to new treatments for the associated conditions.
+Ongoing research is focused on understanding the precise mechanisms by which KCNJ13 mutations lead to retinal degeneration. There is also interest in developing [[gene therapy]] approaches to correct these mutations and restore normal function to the affected cells.
-[[File:KCNJ13 gene location on chromosome.png|thumb|right|Location of the KCNJ13 gene on chromosome 2]]
-== See also ==
+== See Also ==
-* [[Inwardly rectifying potassium channel]]
+* [[Potassium channel]]
+* [[Retinal dystrophy]]
 * [[Leber congenital amaurosis]]
-* [[Snowflake vitreoretinal degeneration]]
 == References ==
 <references />
-[[Category:Genes]]
+== External Links ==
-[[Category:Genetic disorders]]
+* [https://www.ncbi.nlm.nih.gov/gene/3769 KCNJ13 Gene - NCBI]
-[[Category:Eye disorders]]
+* [https://www.omim.org/entry/603208 KCNJ13 - OMIM]
+[[Category:Genes on human chromosome 2]]
 [[Category:Potassium channels]]
+[[Category:Retinal diseases]]
-{{medicine-stub}}