BLOC1S3, Blocking Peptide

Biogenesis of lysosome-related organelles complex 1 subunit 3; BLOC-1 subunit 3; BLOC1S3; BLOS3

For Research Use Only. Not for use in diagnostic procedures.

The synthetic peptide sequence is selected from aa 191-202 of HUMAN BLOC1S3

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of BLOC1S3 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.

21,256 Da

biogenesis of lysosomal organelles complex 1 subunit 3

biogenesis of lysosome-related organelles complex 1 subunit 3

Biogenesis of lysosome-related organelles complex 1 subunit 3

BLOS3; BLOC-1 subunit 3  [Similar Products]

BL1S3_HUMAN

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]

BLOC1S3: The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Belongs to the BLOC1S3 family.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: cytosol; transport vesicle

Molecular Function: protein binding

Biological Process: anterograde axon cargo transport; anterograde synaptic vesicle transport; eye development; melanosome transport; neurite development; pigmentation; platelet activation

Disease: Hermansky-pudlak Syndrome 8

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