Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Oxidative stress-responsive 1 protein

The gene product is a serine-threonine kinase that plays a role in response to oxidative stress. It may also have a role in signal transduction downstream from WNK kinases to SLC12A cotransporters.

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:

Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39

References:

1.

Daigo Y et al. (1999) Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3.

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2.

Tamari M et al. (1999) Isolation and characterization of a novel serine threonine kinase gene on chromosome 3p22-21.3.

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3.

Chen W et al. (2004) Characterization of OSR1, a member of the mammalian Ste20p/germinal center kinase subfamily.

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4.

Anselmo AN et al. (2006) WNK1 and OSR1 regulate the Na+, K+, 2Cl- cotransporter in HeLa cells.

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5.

NCBI article

NCBI 9943 [^]
6.

OMIM.ORG article

Omim 604046 [^]
7.

Wikipedia article

Wikipedia EN (OXSR1) [^]
Update: April 29, 2019