Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene. This gene encodes a protein that may play a role in organelle biogenesis...
7 KB (629 words) - 19:47, 2 October 2024
AP3S2 Adaptor protein complex 4: AP4B1 AP4E1 AP4M1 AP4S1 LMAN1 LYST BLOC-1: DTNBP1 BLOC153 BLOC-2: HPS3 HPS5 HPS6 BLOC-3: HPS1 HPS4 Coats: Retromer TIP47...
53 KB (6,592 words) - 21:23, 11 November 2024
X-linked recessive 2-6:100,000 Hermansky–Pudlak syndrome HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1 1:500,000 Hereditary neuropathy with liability to pressure...
43 KB (995 words) - 08:29, 11 November 2024
disease. HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5, HPS6 and HPS7.[citation needed] HPS type 2, which includes immunodeficiency...
15 KB (1,561 words) - 04:19, 23 March 2024
HGNC:5163 Q92902 7240 HPS3 HGNC:15597 Q969F9 7241 HPS4 HGNC:15844 Q9NQG7 7242 HPS5 HGNC:17022 Q9UPZ3 7243 HPS6 HGNC:18817 Q86YV9 7244 HPSE HGNC:5164 Q9Y251...
277 KB (17 words) - 18:41, 6 October 2024
Hermansky–Pudlak syndrome type 3 HPS4 HPS4 Hermansky–Pudlak syndrome type 4 HPS5 Ru2 Hermansky–Pudlak syndrome type 5 HPS6 Ru Hermansky–Pudlak syndrome type...
12 KB (108 words) - 02:46, 17 September 2022
melanosomes, platelet dense granules, and lysosomes. HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles...
4 KB (546 words) - 07:08, 23 November 2022
Hermansky–Pudlak syndrome 4; 203300; HPS4 Hermansky–Pudlak syndrome 5; 203300; HPS5 Hermansky–Pudlak syndrome 6; 203300; HPS6 Hermansky–Pudlak syndrome 7; 203300;...
234 KB (18,877 words) - 06:16, 6 November 2024
BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6". Traffic. 5 (4): 276–83. doi:10.1111/j.1600-0854.2004.0171.x. PMID 15030569...
5 KB (705 words) - 03:34, 29 November 2023