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KLHL3 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.
Gene Name: | kelch-like family member 3 |
Synonyms: | KLHL3, Kelch-like 3 (Drosophila), KIAA1129, PHA2D, Kelch (Drosophila)-like 3, Kelch-like protein 3 |
Target Sequences: | NM_017415 NP_059111.2 Q9UH77 |
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