This antibody is purified through a protein A column, followed by peptide affinity purification.
Immunogen
This BLOC1S3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 176-202 amino acids from the C-terminal region of human BLOC1S3.
BLOC1S3
Reactivity: Human
WB, ELISA
Host: Rabbit
Polyclonal
PE
Application Notes
WB: 1:1000
Restrictions
For Research Use only
Format
Liquid
Buffer
Purified polyclonal antibody supplied in PBS with 0.09 % (W/V) sodium azide.
Preservative
Sodium azide
Precaution of Use
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Storage
4 °C,-20 °C
Expiry Date
6 months
Seshadri, Fitzpatrick, Ikram, DeStefano, Gudnason, Boada, Bis, Smith, Carassquillo, Lambert, Harold, Schrijvers, Ramirez-Lorca, Debette, Longstreth, Janssens: "Genome-wide analysis of genetic loci associated with Alzheimer disease." in: JAMA : the journal of the American Medical Association, Vol. 303, Issue 18, pp. 1832-40, (2010) (PubMed).
Morgan, Pasha, Johnson, Ainsworth, Eady, Dawood, McKeown, Trembath, Wilde, Watson, Maher: "A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)." in: American journal of human genetics, Vol. 78, Issue 1, pp. 160-6, (2005) (PubMed).
Starcevic, DellAngelica: "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)." in: The Journal of biological chemistry, Vol. 279, Issue 27, pp. 28393-401, (2004) (PubMed).
Target
BLOC1S3
(Biogenesis of Lysosomal Organelles Complex-1, Subunit 3 (BLOC1S3))
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.