Gene: KLHL24

Alternate names for this Gene: DRE1|EBSSH|KRIP6

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: kelch like family member 24

Type of Gene: protein-coding

rs1057515580 in KLHL24 gene and Epidermolysis Bullosa Simplex Kobner PMID 27889062 2016 Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

PMID 27798626 2016 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

rs1057515580 in KLHL24 gene and Fragile skin PMID 27889062 2016 Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes.

PMID 27798626 2016 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

rs12487341 in KLHL24 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12487341 in KLHL24 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.