Recombinant Human BLOC1S3 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: BLOC1S3-6674H
• Product Overview: BLOC1S3 MS Standard C13 and N15-labeled recombinant protein (NP_997715) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 21.1 kDa
• AA Sequence: MASQGRRRRPLRRPETVVPGEATET DSERSASSSEEEELYLGPSGPTRGR PTGLRVAGEAAETDSEPEPEPEPTA APRDLPPLVVQRESAEEAWGTEEAP APAPARSLLQLRLAESQARLDHDVA AAVSGVYRRAGRDVAALASRLAAAQ AAGLAAAHSVRLARGDLCALAERLD IVAGCRLLPDIRGVPGTEPEKDPGP RATRTRPLEQKLISEEDLAANDILD YKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 [ Homo sapiens (human) ]
• Official Symbol: BLOC1S3
• Synonyms: BLOC1S3; biogenesis of lysosomal organelles complex 1 subunit 3; RP; HPS8; BLOS3; biogenesis of lysosome-related organelles complex 1 subunit 3; BLOC-1 subunit 3; biogenesis of lysosome-related organelles complex-1, subunit 3; reduced pigmentation, mouse, homolog of
• Gene ID: 388552
• mRNA Refseq: NM_212550
• Protein Refseq: NP_997715
• MIM: 609762
• UniProt ID: Q6QNY0