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.
Immunogen Information
Immunogen
Recombinant fusion protein of human KLHL3 (NP_059111.2).
Gene ID
26249
Swissprot
Q9UH77
Synonyms
KLHL3PHA2D
Calculated MW
55 kDa/61 kDa/64 kDa
Observed MW
75 kDa
Applications
Reactivity
Human,Mouse
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1 mg/mL
Storage Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Storage Instructions
Store at -20°C. Avoid freeze / thaw cycles.
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