RecName: Full=BTB/POZ domain-containing protein KCTD7

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KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature. [Epilepsia. 2024]
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, et al. Epilepsia. 2024 Mar; 65(3):709-724. Epub 2024 Jan 17.
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. [Clin Dysmorphol. 2022]
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Narayanan DL, Somashekar PH, Majethia P, Shukla A. Clin Dysmorphol. 2022 Jan 1; 31(1):6-10.
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. [Sci Adv. 2022]
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, et al. Sci Adv. 2022 Aug 5; 8(31):eabm5578. Epub 2022 Aug 3.

RefSeq genomic sequence
See the genomic reference sequence for the KCTD7 gene (NG_028110.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the KCTD7 gene.

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