Antibody Name:	HPS6 Antibody (PACO57288)
Antibody SKU:	PACO57288
Size:	50ug
Host Species:	Rabbit
Tested Applications:	ELISA, IHC, IF
Recommended Dilutions:	ELISA:1:2000-1:10000, IHC:1:200-1:500, IF:1:50-1:200
Species Reactivity:	Human
Immunogen:	Recombinant Human Hermansky-Pudlak syndrome 6 protein (221-319AA)

Form:	Liquid
Storage Buffer:	Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Purification Method:	>95%, Protein G purified
Clonality:	Polyclonal
Isotype:	IgG
Conjugate:	Non-conjugated

	IHC image of PACO57288 diluted at 1:400 and staining in paraffin-embedded human kidney tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
	Immunofluorescence staining of Hela cells with PACO57288 at 1:133, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
	IHC image of PACO57288 diluted at 1:400 and staining in paraffin-embedded human adrenal gland tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.

Background:

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning.

Synonyms:

Hermansky-Pudlak syndrome 6 protein (Ruby-eye protein homolog) (Ru), HPS6

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