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Proteintech
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Immunogen sequence: VLARTDWTV EDGLQKYERG LIFYINHSLY ENLDEELNEE LAAKVVQMFY VAEPKQVPHI LCSPSMKNIN PLTAMSYLRK LDTSGFSSIL VTLTKAAVAL KMGDLDMHRN EMKSHSEMKL VCGFILEPRL LIQQRKGQIV PTELALHLKE TQPGLLVASV LGLQKNNKIG IEEADSFFKV LCAKDEDTIP QLLVDFWEAQ LVACLPDVVL QELFFKLTSQ YIWRLSKRQP PDTTPLRTSE DLINACSHYG LIYPWVHVVI SSDSLADKNY TEDLSKLQSL ICGPSFDIAS IIPFLEPLSE DTIAGLSVHV LCRTRLKEYE QCIDILLERC PEAVIPYANH ELKEENRTLW WKKLLPELCQ RIKCGGEKYQ LYLSSLKETL SIVAVELELK DFMNVLPEDG TATFFLPYLL YCSRKKPLT
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: BLOC-2 complex member HPS3; cocoa; DKFZp686F0413; FLJ22704; Hermansky-Pudlak syndrome 3 protein
基因别名: BLOC2S1; HPS3; SUTAL
UniProt ID: (Human) Q969F9
Entrez Gene ID: (Human) 84343