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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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