BLOC1S3 产品
(Biogenesis of Lysosomal Organelles Complex-1, Subunit 3 (BLOC1S3))
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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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Featured BLOC1S3 Categories
BLOC1S3 抗体
High quality antibodies with extensive validation data.
BLOC1S3 蛋白
Proteins for various applications incl. WB, ELISA, IF etc.
Recommended BLOC1S3 抗体
Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Application
WB
Validations
- (3)
- (1)
Cat. No.
ABIN1881114
Quantity
400 μL
Datasheet
Datasheet
Reactivity
Human
Application
WB, IP
Validations
Cat. No.
ABIN7450036
Quantity
100 μg
Datasheet
Datasheet
Reactivity
Human
Application
WB
Validations
Cat. No.
ABIN1806775
Quantity
400 μL
Datasheet
Datasheet
Recommended BLOC1S3 蛋白
Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Source
Tobacco (Nicotiana tabacum)
Validations
- (1)
Cat. No.
ABIN3090268
Quantity
1 mg
Datasheet
Datasheet
Reactivity
Mouse
Source
Tobacco (Nicotiana tabacum)
Validations
- (1)
Cat. No.
ABIN3122651
Quantity
1 mg
Datasheet
Datasheet
Reactivity
Human
Source
HEK-293 Cells
Validations
- (1)
Cat. No.
ABIN2715275
Quantity
20 μg
Datasheet
Datasheet
Latest Publications for our BLOC1S3 Products
: "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).: "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).
: "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).
Synonyms and alternative names related to BLOC1S3
biogenesis of lysosomal organelles complex 1 subunit 3 (BLOC1S3), biogenesis of lysosomal organelles complex-1, subunit 3 (BLOC1S3), biogenesis of lysosomal organelles complex-1, subunit 3 (Bloc1s3), BC043666, BLOS3, Blos3, E230011O18, HPS8, RP, rpProtein level used designations for BLOC1S3
- BLOC-1 subunit 3
- biogenesis of lysosome-related organelles complex 1 subunit 3
- biogenesis of lysosome-related organelles complex-1, subunit 3
- reduced pigmentation, mouse, homolog of
- biogenesis of lysosome-related organelles complex 1, subunit 3
- Bloc-1 complex component
- Bloc1 subunit 3
- reduced pigmentation protein
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