HPS3 Gene

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1		Dean Liu	+ 402 word(s)	402	2020-12-15 07:56:44

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Liu, D. HPS3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4105 (accessed on 29 September 2026).

Liu D. HPS3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4105. Accessed September 29, 2026.

Liu, Dean. "HPS3 Gene" Encyclopedia, https://encyclopedia.pub/entry/4105 (accessed September 29, 2026).

Liu, D. (2020, December 23). HPS3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4105

Liu, Dean. "HPS3 Gene." Encyclopedia. Web. 23 December, 2020.

HPS3 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/hps3

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

genes

References

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW,Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central PuertoRico. Nat Genet. 2001 Aug;28(4):376-80.
Bultema JJ, Ambrosio AL, Burek CL, Di Pietro SM. BLOC-2, AP-3, and AP-1proteins function in concert with Rab38 and Rab32 proteins to mediate proteintrafficking to lysosome-related organelles. J Biol Chem. 2012 Jun1;287(23):19550-63. doi: 10.1074/jbc.M112.351908.
Bultema JJ, Di Pietro SM. Cell type-specific Rab32 and Rab38 cooperate withthe ubiquitous lysosome biogenesis machinery to synthesize specializedlysosome-related organelles. Small GTPases. 2013 Jan-Mar;4(1):16-21. doi:10.4161/sgtp.22349.
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.
Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, ToroJR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 inAshkenazi Jews and other non-Puerto Rican patients with hypopigmentation andplatelet storage-pool deficiency. Am J Hum Genet. 2001 Nov;69(5):1022-32.
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.
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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