The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| KLHL24-20-RE | 20 (40 μL) | 200 μL |  |
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| KLHL24-20-OR | 20 (40 μL) | 200 μL |  |
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| KLHL24-20-GO | 20 (40 μL) | 200 μL |  |
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| KLHL24-20-GR | 20 (40 μL) | 200 μL |  |
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| KLHL24-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
Gene Symbol : KLHL24
Gene Name : Kelch like family member 24
Chromosome : CHR 3: 183,635,116-183,684,518
Locus : 3q27.1
Alt. Genes : LRPPRC
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