rs886059948

This variant is located in the KLHL3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Autosomal dominant pseudohypoaldosteronism type 1; Pseudohypoaldosteronism type 2D

About KLHL3

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

View all KLHL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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