Cell Biology Antibodies 9
Anti-BLOC1S6 Antibody (CAB4620)
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- SKU:
- CAB4620
- Product Type:
- Antibody
- Antibody Type:
- Polyclonal Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Synonyms:
- BLOC1S6
- Synonyms:
- BLOS6
- Synonyms:
- HPS9
- Synonyms:
- PA
- Synonyms:
- PALLID
- Synonyms:
- PLDN
- Research Area:
- Cell Biology
Description
| Product Name: | BLOC1S6 Rabbit pAb |
| Product Code: | CAB4620 |
| Size: | 20uL, 50uL, 100uL |
| Synonyms: | BLOC1S6, BLOS6, HPS9, PA, PALLID, PLDN |
| Applications: | WB |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human BLOC1S6 (NP_036520.1). |
| Applications: | WB |
| Recommended Dilutions: | WB 1:200 - 1:2000 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | U-87MG, HepG2, DU145, K-562, Rat testis |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human BLOC1S6 (NP_036520.1). |
| Purification Method: | Affinity purification |
| Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MSVP GPSS PDGA LTRP PYCL EAGE PTPG LSDT SPDE GLIE DLTI EDKA VEQL AEGL LSHY LPDL QRSK QALQ ELTQ NQVV LLDT LEQE ISKF KECH SMLD INAL FAEA KHYH AKLV NIRK EMLM LHEK TSKL KKRA LKLQ QKRQ KEEL EREQ QREK EFER EKQL TARP AK |
| Gene ID: | 26258 |
| Uniprot: | Q9UL45 |
| Cellular Location: | Cytoplasm, Endomembrane system, Peripheral membrane protein |
| Calculated MW: | 8kDa/19kDa |
| Observed MW: | 20kDa |
| UniProt Protein Function: | PLDN: Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Defects in PLDN are the cause of Hermansky-Pudlak syndrome type 9 (HPS9). A form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 15q21.1 Cellular Component: nucleoplasm; SNARE complex; transport vesicle; extrinsic to membrane; cytoplasm; cytosol; endosome Molecular Function:actin filament binding; identical protein binding; protein binding; protein homodimerization activity; syntaxin binding Biological Process: positive regulation of pigment cell differentiation; secretion of lysosomal enzymes; melanosome organization and biogenesis; anterograde synaptic vesicle transport; melanocyte differentiation; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; blood coagulation; melanosome transport; positive regulation of natural killer cell activation; neurite development; synaptic vesicle docking during exocytosis Disease: Hermansky-pudlak Syndrome 9 |
| NCBI Summary: | The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015] |
| UniProt Code: | Q9UL45 |
| NCBI GenInfo Identifier: | 41017511 |
| NCBI Gene ID: | 26258 |
| NCBI Accession: | Q9UL45.1 |
| UniProt Related Accession: | Q9UL45 |
| Molecular Weight: | 20 kDa |
| NCBI Full Name: | Biogenesis of lysosome-related organelles complex 1 subunit 6 |
| NCBI Synonym Full Names: | biogenesis of lysosomal organelles complex 1 subunit 6 |
| NCBI Official Symbol: | BLOC1S6 |
| NCBI Official Synonym Symbols: | PA; HPS9; PLDN; BLOS6; PALLID |
| NCBI Protein Information: | biogenesis of lysosome-related organelles complex 1 subunit 6 |
| UniProt Protein Name: | Biogenesis of lysosome-related organelles complex 1 subunit 6 |
| UniProt Synonym Protein Names: | Pallid protein homolog; Pallidin; Syntaxin 13-interacting protein |
| UniProt Gene Name: | BLOC1S6 |
| UniProt Entry Name: | BL1S6_HUMAN |
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