Structural highlights
Disease
HPS1_HUMAN Hermansky-Pudlak syndrome due to BLOC-3 deficiency. The disease is caused by variants affecting the gene represented in this entry.
Function
HPS1_HUMAN Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).[1]
References
- ↑ Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA. BLOC-3 mutated in Hermansky-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. Epub 2012, Oct 18. PMID:23084991 doi:http://dx.doi.org/10.1016/j.cub.2012.09.020
