Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene. This gene encodes a protein that may play a role in organelle biogenesis...
7 KB (913 words) - 04:17, 18 September 2024
potentially fatal 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...
15 KB (1,561 words) - 04:19, 23 March 2024
caused by a number of other genes as well, like OCA2, SLC45A2, TYRP1, and HPS1 to name some. In all, already 17 types of oculocutaneous albinism have been...
20 KB (2,274 words) - 09:10, 28 July 2024
BLOC-1 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...
2 KB (247 words) - 00:34, 22 August 2021
PMID 31803258. "Specialty: HPS1-3-2-20—Higher Specialist Scientist Training | Curriculum Library | NSHCS". "Specialty: HPS1-3-1-20—Higher Specialist Scientist...
60 KB (6,391 words) - 16:58, 4 September 2024
autosomal recessive or X-linked recessive 2-6:100,000 Hermansky–Pudlak syndrome HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1 1:500,000 Hereditary neuropathy with...
42 KB (983 words) - 18:14, 6 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) - 12:55, 13 October 2024
HGNC:5155 P05981 7237 HPR HGNC:5156 P00739 7238 HPRT1 HGNC:5157 P00492 7239 HPS1 HGNC:5163 Q92902 7240 HPS3 HGNC:15597 Q969F9 7241 HPS4 HGNC:15844 Q9NQG7...
277 KB (17 words) - 18:41, 6 October 2024
Papular atrichia Hamartin Tuberous sclerosis type 1 HFE Hemochromatosis HPS1 HPS1 Hermansky–Pudlak syndrome type 1 HPS3 HPS3 Hermansky–Pudlak syndrome type...
12 KB (108 words) - 02:46, 17 September 2022
Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved...
6 KB (785 words) - 03:34, 29 November 2023
neuropathy, type IIc; 606071; TRPV4 Hermansky–Pudlak syndrome 1; 203300; HPS1 Hermansky–Pudlak syndrome 2; 608233; AP3B1 Hermansky–Pudlak syndrome 3; 203300;...
234 KB (18,877 words) - 15:43, 9 May 2024
JS, Collinson LM, Swank RT (Mar 2002). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of...
8 KB (989 words) - 08:03, 13 October 2022
(BLOC-3): A complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8770–5. Bibcode:2003PNAS...
5 KB (705 words) - 03:34, 29 November 2023