Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene. Hermansky–Pudlak syndrome is a disorder of organelle biogenesis in...
6 KB (785 words) - 03:34, 29 November 2023
lung 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
include: HPS1, HPS4 Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are...
2 KB (247 words) - 00:34, 22 August 2021
Zhang Q, et al. (2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat. Genet. 30 (3): 321–4...
7 KB (913 words) - 08:36, 2 November 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
or 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...
43 KB (995 words) - 08:29, 11 November 2024
HGNC:5157 P00492 7239 HPS1 HGNC:5163 Q92902 7240 HPS3 HGNC:15597 Q969F9 7241 HPS4 HGNC:15844 Q9NQG7 7242 HPS5 HGNC:17022 Q9UPZ3 7243 HPS6 HGNC:18817 Q86YV9...
277 KB (17 words) - 18:41, 6 October 2024
Hermansky–Pudlak syndrome type 1 HPS3 HPS3 Hermansky–Pudlak syndrome type 3 HPS4 HPS4 Hermansky–Pudlak syndrome type 4 HPS5 Ru2 Hermansky–Pudlak syndrome type...
12 KB (108 words) - 02:46, 17 September 2022
Hermansky–Pudlak syndrome 3; 203300; HPS3 Hermansky–Pudlak syndrome 4; 203300; HPS4 Hermansky–Pudlak syndrome 5; 203300; HPS5 Hermansky–Pudlak syndrome 6; 203300;...
234 KB (18,877 words) - 06:16, 6 November 2024
complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8770–5. Bibcode:2003PNAS..100.8770N...
5 KB (705 words) - 03:34, 29 November 2023