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 c (NP_001336358.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
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Full text in PMC
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Gene
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OMIM
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PubMed (RefSeq)
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PubMed (Weighted)
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SNP
Related SNPs

Homo sapiens kelch like family member 24 (KLHL24), transcript variant 18, mRNA
Homo sapiens kelch like family member 24 (KLHL24), transcript variant 18, mRNA
gi|1159261160|ref|NM_001349429.1|

Nucleotide
Homo sapiens kelch like family member 24 (KLHL24), transcript variant 10, mRNA
Homo sapiens kelch like family member 24 (KLHL24), transcript variant 10, mRNA
gi|1159261119|ref|NM_001349421.1|

Nucleotide
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss

MedGen
C4310631[conceptid] (1)
MedGen

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Nucleotide