Homo sapiens kelch like family member 24 (KLHL24), transcript variant - Nucleotide

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EBS in Children with De Novo Pathogenic Variants Disturbing Krt14. [Int J Mol Sci. 2024]
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV, Ryumina II, Botkina AS, Evtushenko NA, Zhigmitova EB, Martynova AA, Gurskaya NG, Rebrikov DV. Int J Mol Sci. 2024 Mar 4; 25(5). Epub 2024 Mar 4.
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.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. [Int J Mol Sci. 2022]
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling.
Kouranti I, Abdel Khalek W, Mazurkiewicz S, Loisel-Ferreira I, Gautreau AM, Pintard L, Jeunemaitre X, Clauser E. Int J Mol Sci. 2022 May 5; 23(9). Epub 2022 May 5.

RefSeq protein product
See the reference protein sequence for kelch-like protein 24 isoform a (NP_001336347.1).

Protein
Protein sequence from Nucleotide coding region
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Taxonomy
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Annotated Genomic
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Functional Class
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SNP
Related SNPs

Homo sapiens kelch like family member 24 (KLHL24), transcript variant 6, mRNA
Homo sapiens kelch like family member 24 (KLHL24), transcript variant 6, mRNA
gi|1159261158|ref|NM_001349418.1|

Nucleotide

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Nucleotide