kelch-like protein 24 isoform a [Homo sapiens]

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Articles about the KLHL24 gene

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. [Br J Dermatol. 2022]
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, et al. Br J Dermatol. 2022 Dec; 187(6):1045-1048. Epub 2022 Sep 9.
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy. [Hum Mol Genet. 2022]
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, et al. Hum Mol Genet. 2022 Apr 22; 31(8):1308-1324.
Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues. [J Clin Invest. 2021]
Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues.
Vermeer MC, Bolling MC, Bliley JM, Arevalo Gomez KF, Pavez-Giani MG, Kramer D, Romero-Herrera PH, Westenbrink BD, Diercks GF, van den Berg MP, et al. J Clin Invest. 2021 Jul 22; 131(17). Epub 2021 Jul 22.

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Reference sequence information

RefSeq mRNA
See reference mRNA sequence for the KLHL24 gene (NM_001349417.1).
RefSeq protein isoforms
See 35 reference sequence protein isoforms for the KLHL24 gene.

More about the KLHL24 gene

The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translat...
Also Known As: CMH29, DRE1, EBS6, EBSS...

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Articles about the KLHL24 gene

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