KCNJ13

KCNJ13

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

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 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 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

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.

See Also

• Potassium channel
• Retinal dystrophy
• Leber congenital amaurosis

References

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External Links

• KCNJ13 Gene - NCBI
• KCNJ13 - OMIM