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Center for Nephrology and Metabolic Disorders
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Potassium inwardly-rectifying channel, subfamily J, member 10

Th KCNJ10 gene encodes a member of the inward rectifier-type potassium channel family. Its presence in the kidney and in the central nervous system accounts for the comples symptoms of the EAST syndrome, an autosomal recessive disease caused by mutations of that gene.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

EAST syndrome
KCNJ10

References:

1.

Neusch C et al. (2001) Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

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2.

Rozengurt N et al. (2003) Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.

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3.

Scholl UI et al. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

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4.

Bockenhauer D et al. (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

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5.

Djukic B et al. (2007) Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation.

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6.

Doupnik CA et al. (1995) The inward rectifier potassium channel family.

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7.

Takumi T et al. (1995) A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells.

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8.

Tada Y et al. (1997) Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1.

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9.

NCBI article

NCBI 3766 external link
10.

OMIM.ORG article

Omim 602208 external link
11.

Orphanet article

Orphanet ID 189344 external link
12.

Wikipedia article

Wikipedia EN (KCNJ10) external link
Update: Aug. 14, 2020
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