HPS1 Gene

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1		Dean Liu	+ 378 word(s)	378	2020-12-15 07:56:43

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Liu, D. HPS1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4104 (accessed on 29 September 2026).

Liu D. HPS1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4104. Accessed September 29, 2026.

Liu, Dean. "HPS1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4104 (accessed September 29, 2026).

Liu, D. (2020, December 23). HPS1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4104

Liu, Dean. "HPS1 Gene." Encyclopedia. Web. 23 December, 2020.

HPS1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/hps1

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

genes

References

Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL. A divalentinteraction between HPS1 and HPS4 is required for the formation of the biogenesisof lysosome-related organelle complex-3 (BLOC-3). Biochim Biophys Acta. 2013Mar;1833(3):468-78. doi: 10.1016/j.bbamcr.2012.10.019.
Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of geneticdisorders of hypopigmentation: lessons learned from the biology of melanocytes.Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x.
Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V,Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinicalcharacteristics of patients with a form of oculocutaneous albinism(Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18):1258-64.
Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA. BLOC-3 mutated inHermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020.
Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders oflysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303.Review.
Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA. Platelet alphagranules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets.2007 Mar;18(2):150-7.
Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, HatanoM, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysisof HPS1 mutant protein. J Invest Dermatol. 2005 Oct;125(4):715-20.
Li W, Feng Y, Hao C, Guo X, Cui Y, He M, He X. The BLOC interactomes form anetwork in endosomal transport. J Genet Genomics. 2007 Aug;34(8):669-82. Review.
Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, SpritzRA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 andHermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J InvestDermatol. 2006 Jan;126(1):85-90.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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