KLHL24
kelch like family member 24
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]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6797002 | 3:183,363,263 | C/T | intron variant | — |
| rs6797004 | 3:183,363,270 | C/T | — | — |
| rs3755650 | 3:183,367,937 | T/C | — | benign |
| rs3755649 | 3:183,368,005 | G/A | — | benign |
| rs886037956 | 3:183,368,145 | A/G | missense variant | pathogenic |
| rs1057515580 | 3:183,368,146 | T/C | missense variant | pathogenic |
| rs886037957 | 3:183,368,147 | G/C | missense variant | pathogenic |
| rs2545592803 | 3:183,368,152 | T/C | — | uncertain significance |
| rs142665840 | 3:183,368,157 | T/C | — | benign |
| rs145987220 | 3:183,368,163 | C/T | — | uncertain significance |
| rs148250970 | 3:183,368,164 | G/A | — | uncertain significance |
| rs763143836 | 3:183,368,194 | G/A | — | uncertain significance |
| rs766486516 | 3:183,368,215 | G/A | — | uncertain significance |
| rs3755648 | 3:183,368,216 | A/T | — | benign |
| rs150739493 | 3:183,368,291 | C/T | — | likely benign |
| rs764607099 | 3:183,368,292 | G/A | — | uncertain significance |
| rs1261493748 | 3:183,368,323 | G/A | — | uncertain significance |
| rs139113309 | 3:183,368,332 | G/A | — | uncertain significance |
| rs2545595102 | 3:183,368,511 | T/C | — | uncertain significance |
| rs751186011 | 3:183,368,527 | A/G | — | uncertain significance |
| rs779398932 | 3:183,368,586 | A/G | — | uncertain significance |
| rs201811928 | 3:183,368,726 | T/A | — | benign |
| rs116961268 | 3:183,368,734 | A/C | — | benign |
| rs16857887 | 3:183,368,747 | C/T | — | benign |
| rs1256356011 | 3:183,368,748 | G/A | — | uncertain significance |
| rs202077836 | 3:183,368,766 | G/C | — | uncertain significance |
| rs766128997 | 3:183,368,812 | T/C | — | uncertain significance |
| rs2293031 | 3:183,368,891 | T/C | — | benign |
| rs2545597482 | 3:183,368,907 | G/A | — | uncertain significance |
| rs2108797913 | 3:183,368,988 | T/C | — | uncertain significance |
| rs201498239 | 3:183,368,990 | T/C | — | likely benign |
| rs758853660 | 3:183,369,001 | A/G | — | uncertain significance |
| rs778943927 | 3:183,369,061 | G/A | — | pathogenic |
| rs73174034 | 3:183,369,324 | C/A | — | benign |
| rs10470355 | 3:183,373,567 | A/G | intron variant | — |
| rs554632245 | 3:183,374,693 | G/A | — | — |
| rs12638420 | 3:183,375,992 | C/T | intron variant | — |
| rs71631242 | 3:183,378,745 | T/G | — | — |
| rs12696507 | 3:183,380,984 | T/A | — | benign |
| rs12696508 | 3:183,381,024 | G/C | — | benign |
| rs9290769 | 3:183,381,073 | C/G | — | benign |
| rs2545651806 | 3:183,381,373 | G/T | — | pathogenic |
| rs565684345 | 3:183,381,440 | G/T | — | benign |
| rs151271724 | 3:183,382,761 | T/A | — | likely benign |
| rs140523161 | 3:183,382,770 | A/G | — | likely benign |
| rs754865611 | 3:183,382,799 | G/T | — | uncertain significance |
| rs1214484497 | 3:183,382,819 | C/T | — | uncertain significance |
| rs115223597 | 3:183,382,837 | A/T | — | benign |
| rs2545660337 | 3:183,382,844 | T/C | — | likely benign |
| rs3772703 | 3:183,388,526 | G/A | — | benign |
| rs769048883 | 3:183,388,910 | C/T | — | uncertain significance |
| rs770017921 | 3:183,388,941 | A/G | — | likely benign |
| rs2033925 | 3:183,389,926 | G/A | — | benign |
| rs74440691 | 3:183,390,030 | T/C | — | benign |
| rs1348545765 | 3:183,390,097 | A/G | — | uncertain significance |
| rs2545695623 | 3:183,390,178 | T/A | — | uncertain significance |
| rs2545695859 | 3:183,390,216 | T/C | — | uncertain significance |
| rs138664031 | 3:183,390,228 | G/C | — | conflicting classifications of pathogenicity |
| rs569723103 | 3:183,390,249 | G/A | — | uncertain significance |
| rs55790174 | 3:183,390,418 | C/T | — | benign |
| rs547384376 | 3:183,396,711 | C/T | — | benign |
| rs1430233851 | 3:183,396,880 | T/A | — | uncertain significance |
| rs371617655 | 3:183,396,894 | G/T | — | likely benign |
| rs372685468 | 3:183,396,929 | G/A | — | uncertain significance |
| rs895819097 | 3:183,396,955 | A/G | — | uncertain significance |
| rs117473658 | 3:183,396,973 | G/T | — | conflicting classifications of pathogenicity |
| rs762218625 | 3:183,397,012 | C/T | — | conflicting classifications of pathogenicity |
| rs75133347 | 3:183,397,233 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.