BLOC1S3 (NM_212550) Human Mass Spec Standard

Specifications

Product Data
Description	BLOC1S3 MS Standard C13 and N15-labeled recombinant protein (NP_997715)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC221221
Predicted MW	21.1 kDa
Protein Sequence	Sequence Link (showhide) >RC221221 representing NM_212550 Red=Cloning site Green=Tags(s) MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPE PEPTAAPRDLPPLVVQRESAEEAWGTEEAPAPAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVA ALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGPRA TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq	NP_997715
RefSeq Size	609
RefSeq ORF	606
Synonyms	BLOS3; HPS8; RP
Locus ID	388552
Cytogenetics	19q13.32
Summary	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

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