Anti-BLOC1S3 Antibody (CAB17281)
- SKU:
- CAB17281
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
Frequently bought together:
Description
| Antibody Name: | Anti-BLOC1S3 Antibody |
| Antibody SKU: | CAB17281 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | IHC IF |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-202 of human BLOC1S3 (NP_997715.1). |
| Application: | IHC IF |
| Recommended Dilution: | IHC 1:50 - 1:200 IF 1:50 - 1:200 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-202 of human BLOC1S3 (NP_997715.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MASQ GRRR RPLR RPET VVPG EATE TDSE RSAS SSEE EELY LGPS GPTR GRPT GLRV AGEA AETD SEPE PEPE PTAA PRDL PPLV VQRE SAEE AWGT EEAP APAP ARSL LQLR LAES QARL DHDV AAAV SGVY RRAG RDVA ALAS RLAA AQAA GLAA AHSV RLAR GDLC ALAE RLDI VAGC RLLP DIRG VPGT EPEK DPGP RA |
| Gene ID: | 388552 |
| Uniprot: | Q6QNY0 |
| Cellular Location: | |
| Calculated MW: | |
| Observed MW: | Refer to figures |
 | Immunohistochemistry - BLOC1S3 Rabbit pAb (CAB17281) |
| Synonyms: | BLOC1S3, BLOS3, HPS8, RP |
| Background: | 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. |
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Cell development/differentiation Chromosomal Location of Human Ortholog: 19q13.32 Cellular Component: transport vesicle; cytosol Molecular Function:protein binding Biological Process: response to drug; platelet activation; secretion of lysosomal enzymes; platelet dense granule organization and biogenesis; pigmentation; eye development; melanosome organization and biogenesis; anterograde synaptic vesicle transport; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; melanosome transport; positive regulation of natural killer cell activation; neurite development Disease: Hermansky-pudlak Syndrome 8 |
| NCBI 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] |
| UniProt Code: | Q6QNY0 |
| NCBI GenInfo Identifier: | 47086495 |
| NCBI Gene ID: | 388552 |
| NCBI Accession: | NP_997715.1 |
| UniProt Related Accession: | Q6QNY0 |
| Molecular Weight: | |
| NCBI Full Name: | biogenesis of lysosome-related organelles complex 1 subunit 3 |
| NCBI Synonym Full Names: | biogenesis of lysosomal organelles complex 1 subunit 3 |
| NCBI Official Symbol: | BLOC1S3 |
| NCBI Official Synonym Symbols: | RP; HPS8; BLOS3 |
| NCBI Protein Information: | biogenesis of lysosome-related organelles complex 1 subunit 3 |
| UniProt Protein Name: | Biogenesis of lysosome-related organelles complex 1 subunit 3 |
| Protein Family: | Biogenesis of lysosome-related organelles complex |
| UniProt Gene Name: | BLOC1S3 |
| UniProt Entry Name: | BL1S3_HUMAN |
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