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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| KLHL3-20-RE | 20 (40 μL) | 200 μL |  |
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| KLHL3-20-OR | 20 (40 μL) | 200 μL |  |
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| KLHL3-20-GO | 20 (40 μL) | 200 μL |  |
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| KLHL3-20-GR | 20 (40 μL) | 200 μL |  |
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| KLHL3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : KLHL3
Gene Name : Kelch like family member 3
Chromosome : CHR 5: 137,736,089-137,617,499
Locus : 5q31.2
Alt. Genes : FEM1B
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