https://www.ncbi.nlm.nih.gov/gene/54800
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
- Also known as DRE1; EBSSH; KRIP6
- Summary 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] Ubiquitous expression in heart (RPKM 9.5), thyroid (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
- Preferred Names
- kelch-like protein 24
- Names
- kainate receptor interacting protein for GluR6
- kelch-like 24
- Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases. El Hachem M, et al. Acta Derm Venereol, 2019 Feb 1. PMID 30226531
- The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility. Has C. J Invest Dermatol, 2017 Jun. PMID 28532758
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex. Lee JYW, et al. J Invest Dermatol, 2017 Jun. PMID 28111128
- A microRNA encoded by HSV-1 inhibits a cellular transcriptional repressor of viral immediate early and early genes. Wu W, et al. Sci China Life Sci, 2013 Apr. PMID 23512275
- Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. He Y, et al. Am J Hum Genet, 2016 Dec 1. PMID 27889062, Free PMC Article
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032. KLHL24 is a
member of the Kelch-like protein family, which acts as
substrate-specific adaptors to Cullin E3 ubiquitin ligases.
Endomyocardial and skeletal muscle biopsies from affected individuals of
both families demonstrated characteristic alterations, including
accumulation of desmin _IF( intermediate filaments). Knock-down of the
zebrafish homologue klhl24a results in heart defects similar to that
described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. Our findings reveal a crucial role for KLHL24 in cardiac development and function.PMID:30715372
2.
Bolling MC, Jonkman MF.
J Invest Dermatol. 2019 Jan;139(1):22-24. doi: 10.1016/j.jid.2018.08.010. KLHL24
mutations have recently been associated with epidermolysis bullosa
simplex. Initial studies focused on skin fragility. However, the picture
of KLHL24
mutations causing extracutaneous human disease is emerging, with dilated
cardiomyopathy as a strong association. In addition, neurological
disease is suspected as well. Careful clinical follow-up and functional
studies of (mutated) KLHL24 in these tissues are needed.PMID: 30579426
3.
EActa Derm Venereol. 2019 Feb 1;99(2):238-239. doi: 10.2340/00015555-3046. No abstract available. PMID: 30226531
4.
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16. No abstract available. PMID: 30120936
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