KLHL24, Official Symbol KLHL24provided by HGNC Official Full Name kelch like family member 24provided by HGNC Primary source HGNC:HGNC:25947 See related Ensembl:ENSG00000114796 MIM:611295; AllianceGenome:HGNC:25947 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DRE1; EBS6; CMH29; 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] Expression Ubiquitous expression in heart (RPKM 9.5), thyroid (RPKM 9.3) and 25 other tissues See more Orthologs mouse all