neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. The CLN6 protein is part of the EGRESS complex (ER-to-Golgi relaying of enzymes...
7 KB (919 words) - 22:14, 28 November 2023
soluble lysosomal protein. Variant of the late infantile NCL: CLN6 encodes for the protein CLN6, which serves as a transmembrane protein of the endoplasmic...
33 KB (3,618 words) - 02:09, 31 March 2025
country code Genes related to neuronal ceroid lipofuscinosis: CLN3, CLN5, CLN6, CLN8 This disambiguation page lists articles associated with the title CLN...
878 bytes (129 words) - 23:15, 1 November 2024
Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6". American Journal of Human Genetics. 88 (5): 566–73. doi:10.1016/j.ajhg...
39 KB (4,404 words) - 09:57, 14 March 2025
nerve cell.[citation needed] Mutations to the CLN6 and PPT1 genes result in Kufs disease Type A. CLN6 produces proteins that facilitate fat transport...
7 KB (841 words) - 07:36, 7 December 2024
5 Finnish Variant / late infantile (CLN5) Type 6 Late infantile variant (CLN6) Type 7 CLN7 Type 8 Northern epilepsy (CLN8) Type 8 Turkish late infantile...
18 KB (1,829 words) - 10:05, 14 December 2024
CLN5 Ceroid-lipofuscinosis, neuronal-6, variant late infantile; 601780; CLN6 Cervical cancer, somatic; 603956; FGFR3 Chanarin–Dorfman syndrome; 275630;...
234 KB (18,877 words) - 18:07, 24 March 2025
a result of mutations in the TPP1 gene; however, mutations in the CLN5, CLN6, CLN8, MFSD8, and PPT1 genes also account for a small number of cases. These...
8 KB (796 words) - 16:12, 28 October 2024
HGNC:24039 Q9H6B4 3197 CLN3 HGNC:2074 Q13286 3198 CLN5 HGNC:2076 O75503 3199 CLN6 HGNC:2077 Q9NWW5 3200 CLN8 HGNC:2079 Q9UBY8 3201 CLNK HGNC:17438 Q7Z7G1 3202...
277 KB (17 words) - 18:34, 6 October 2024
receptor for lysosomal soluble proteins in the ER. CLN8 proteins pair with CLN6 proteins to form the EGRESS complex (ER-to-Golgi relaying of enzymes of the...
9 KB (894 words) - 05:35, 29 August 2023