superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene. MFSD8 is an atypical SLC, thus a predicted SLC...
6 KB (708 words) - 23:42, 2 December 2023
endoplasmic reticulum. Turkish variant of late infantile NCL: CLN7 or MFSD8, encodes for MFSD8, which functions as a lysosomal transmembrane protein. Northern...
31 KB (3,426 words) - 19:52, 23 August 2024
Portugal, the United Kingdom and other nations 601780 CLN6 Type 7 CLN7 610951 MFSD8 Type 8 CLN8 Northern epilepsy, progressive epilepsy with mental retardation...
39 KB (4,405 words) - 15:34, 2 October 2024
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 mutations...
8 KB (794 words) - 19:54, 23 August 2024
are: MFSD1, MFSD2A, MFSD2B, MFSD3, MFSD4A, MFSD4B, MFSD5, MFSD6, MFSD6L, MFSD8, MFSD9, MFSD10, MFSD11, MFSD12, MFSD13A, MFSD14A, MFSD14B, UNC93A, UNC93B1...
52 KB (5,028 words) - 16:45, 9 September 2024
Q6N075 9523 MFSD6 HGNC:24711 Q6ZSS7 9524 MFSD6L HGNC:26656 Q8IWD5 9525 MFSD8 HGNC:28486 Q8NHS3 9526 MFSD9 HGNC:28158 Q8NBP5 9527 MFSD10 HGNC:16894 Q14728...
277 KB (17 words) - 19:37, 1 October 2024
SVOPL, MFSD1, MFSD2A, MFSD2B, MFSD3, MFSD4A, MFSD4B, MFSD5, MFSD6, MFSD6L, MFSD8, MFSD9, MFSD10, MFSD11, MFSD12, MFSD13A, MFSD14A, MFSD14B, UNC93A and UNC93B1...
5 KB (515 words) - 18:32, 23 March 2022
SVOPL, MFSD1, MFSD2A, MFSD2B, MFSD3, MFSD4A, MFSD4B, MFSD5, MFSD6, MFSD6L, MFSD8, MFSD9, MFSD10, MFSD11, MFSD12, MFSD13A, MFSD14A, MFSD14B, UNC93A and UNC93B1...
35 KB (3,408 words) - 02:42, 30 November 2023
PMID 12125808. Kousi M, Siintola E, Dvorakova L, et al. (2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis"...
9 KB (1,114 words) - 18:46, 27 November 2023
neuronal, 10; 610127; CTSD Ceroid lipofuscinosis, neuronal, 7; 610951; MFSD8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; CLN8...
234 KB (18,877 words) - 15:43, 9 May 2024