HPS6 Antibody (PACO09792)
- SKU:
- PACO09792
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- Applications:
- WB
- Applications:
- IHC
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Description
| Antibody Name: | HPS6 Antibody (PACO09792) |
| Antibody SKU: | PACO09792 |
| Size: | 50ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, WB, IHC |
| Recommended Dilutions: | |
| Species Reactivity: | Human, Mouse, Rat |
| Immunogen: | Human HPS6 |
| Form: | Liquid |
| Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
| Purification Method: | Antigen Affinity Purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
| Synonyms: | Hermansky-Pudlak syndrome 6;HPS6;FLJ22501;MGC20522;RP11-302K17.1 ; |
| UniProt Protein Function: | HPS6: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6). 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.Protein type: Unknown functionChromosomal Location of Human Ortholog: 10q24.32Cellular Component: membrane; endoplasmic reticulum; early endosome membraneMolecular Function: GTP-dependent protein binding; Rab GTPase bindingBiological Process: organelle organization and biogenesis; melanocyte differentiation; blood coagulationDisease: Hermansky-pudlak Syndrome 6 |
| UniProt Protein Details: | |
| NCBI Summary: | This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q86YV9 |
| NCBI GenInfo Identifier: | 31881785 |
| NCBI Gene ID: | 79803 |
| NCBI Accession: | NP_079023.2 |
| UniProt Secondary Accession: | Q86YV9,Q5VV69, Q9H685 |
| UniProt Related Accession: | Q86YV9 |
| Molecular Weight: | 82,975 Da |
| NCBI Full Name: | Hermansky-Pudlak syndrome 6 protein |
| NCBI Synonym Full Names: | Hermansky-Pudlak syndrome 6 |
| NCBI Official Symbol: | HPS6 |
| NCBI Official Synonym Symbols: | |
| NCBI Protein Information: | Hermansky-Pudlak syndrome 6 protein; ruby-eye protein homolog; Hermansky-Pudlak syndrome-6 protein (HPS6) |
| UniProt Protein Name: | Hermansky-Pudlak syndrome 6 protein |
| UniProt Synonym Protein Names: | Ruby-eye protein homolog; Ru |
| Protein Family: | Hermansky-Pudlak syndrome 6 protein |
| UniProt Gene Name: | HPS6 |
| UniProt Entry Name: | HPS6_HUMAN |
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