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| Gene Symbol | KCTD7 | ||||||||||
| Synonyms | CLN14 | EPM3 | ||||||||||
| Gene Description | KCTD7, potassium channel tetramerisation domain containing 7, is one of 25 members of the KCTD gene family and is a potassium channel-related gene that interacts with CUL3 and may play a role in protein degradation and nueuronal autophagy (PMID: 22693283, PMID: 31197948). Germline variants in KCTD7 are associated with progressive myoclonic epilepsy (PMID: 31197948) and a KCTD7-BRAF fusion has been identified in desmoplastic Spitz nevus (PMID: 23890088). | ||||||||||
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