KCNJ13 Products

Description

FUNCTION: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.; Tissue specificity: Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord.; Subcellular location: Membrane, Multi-pass membrane protein.; Involvement in disease: Defects in KCNJ13 are the cause of snowflake vitreoretinal degeneration (SVD). SVD is a developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.

Bioinformatics

Entrez	3769 Human
Uniprot	O60928 Human NM_002242 Human
Product By Gene ID	3769
Alternate Names	inwardly rectifying subfamily J member 13 Inward rectifier K(+) channel Kir7.1 MGC33328 potassium inwardly-rectifying channel, subfamily J, member 13

Diseases related to KCNJ13

Discover more about diseases related to KCNJ13.

Retinal Degeneration
Disorder Of Eye
Swine Vesicular Disease
Night Blindness
Retinal Diseases
Snowflake Vitreoretinal Degeneration
Retinitis Pigmentosa
Retinal Detachment
Epilepsy
Cataract
Amaurosis
Meningeal Disorder
Idiopathic Generalized Epilepsy
Epilepsy, Generalized
Bartter Disease
Eye Diseases, Hereditary
Epilepsy, Temporal Lobe

Research Areas for KCNJ13

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Vision

Bioinformatics Tool for KCNJ13

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