HPS3
| HPS3 | |||||||||||||||||
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| Aliases | HPS3, SUTAL, BLOC2S1, biogenesis of lysosomal organelles complex 2 subunit 1 | ||||||||||||||||
| External IDs | MGI: 2153839 HomoloGene: 13019 GeneCards: HPS3 | ||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||
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| Location (UCSC) | Chr 3: 149.13 – 149.17 Mb | Chr 3: 20 – 20.04 Mb | |||||||||||||||
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NM_001146323
NM_001146324
NM_080634
NP_001139795
NP_001139796
NP_542365
Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.
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Wikipedia