subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 gene. This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit...
6 KB (757 words) - 19:25, 3 December 2023
MT-ATP8 H+ transporting, lysosomal: ATP6AP1, ATP6AP2, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP6V1C1, ATP6V1C2, ATP6V1D, ATP6V1E1, ATP6V1E2, ATP6V1F, ATP6V1G1, ATP6V1G2...
18 KB (2,143 words) - 23:05, 27 February 2024
O75787 1264 ATP6V1A HGNC:851 P38606 1265 ATP6V1B1 HGNC:853 P15313 1266 ATP6V1B2 HGNC:854 P21281 1267 ATP6V1C1 HGNC:856 P21283 1268 ATP6V1C2 HGNC:18264...
277 KB (17 words) - 23:17, 27 April 2024
pathogenic variants in the brain isoform of V-type proton ATPase subunit B, ATP6V1B2. Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern...
7 KB (613 words) - 10:32, 8 January 2024
V1 Subunits Subunit Human Gene Note A, B ATP6V1A, ATP6V1B1, ATP6V1B2 Catalytic hexamer. C ATP6V1C1, ATP6V1C2 D ATP6V1D Central rotor stalk, responsible...
44 KB (4,866 words) - 10:52, 26 October 2023
Viviana; Bauer, Christiane K; et al. (2015). "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome". Nature Genetics. 47 (6): 661–7. doi:10...
173 KB (17,264 words) - 08:00, 8 May 2024
direct contact with the ADP/ATP molecule. ATP5A1; ATP5B; ATP6V1A; ATP6V1B1; ATP6V1B2; Itoh H, Yoshida M, Yasuda R, Noji H, Kinosita K (2001). "Resolution of...
9 KB (878 words) - 01:28, 29 November 2023
Stella L, Ciolfi A, Alawi M, et al. (June 2015). "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome". Nature Genetics. 47 (6): 661–667. doi:10...
14 KB (1,586 words) - 18:58, 6 September 2023