Rabbit anti-Human HPS3 Polyclonal Antibody | anti-HPS3 antibody

HPS3, NT (HPS3, Hermansky-Pudlak syndrome 3 protein) (Azide free) (HRP)

Cat. Num. AAA6308258

• Gene Names: HPS3; SUTAL; BLOC2S1
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: HPS3; Polyclonal Antibody; NT (HPS3; Hermansky-Pudlak syndrome 3 protein) (Azide free) (HRP); Hermansky-Pudlak syndrome 3 protein; anti-HPS3 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Horseradish Peroxidase (HRP).

• Applicable Applications for anti-HPS3 antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: HPS3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 261-290 amino acids from the N-terminal region of human HPS3.
• Conjugate: HRP
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Note: Sodium azide is a potent inhibitor of peroxidase and should not be added to HRP conjugates. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(HPS3 Antibody (N-term) western blot analysis in T47D cell line lysates (35ug/lane).This demonstrates the HPS3 antibody detected the HPS3 protein (arrow).)

Related Product Information for anti-HPS3 antibody

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq].

Product Categories/Family for anti-HPS3 antibody

Antibodies; Disease Markers

References

Torres-Serrant, M., et al. J. Pediatr. Hematol. Oncol. 32(6):448-453(2010). Huizing, M., et al. Platelets 18(2):150-157(2007). Santiago Borrero, P.J., et al. J. Invest. Dermatol. 126(1):85-90(2006). Boissy, R.E., et al. Am. J. Pathol. 166(1):231-240(2005). Helip-Wooley, A., et al. BMC Cell Biol. 6, 33 (2005).

NCBI and Uniprot Product Information

• NCBI GI #: 19923642
• NCBI GeneID: 84343
• NCBI Accession #: NP_115759.2
• NCBI GenBank Nucleotide #: NM_032383.4
• UniProt Accession #: Q969F9; Q8WTV6; Q96AP1; Q96MR3; Q9H608; A8K6G6
• Molecular Weight: 100,629 Da
• NCBI Official Full Name: Hermansky-Pudlak syndrome 3 protein isoform 1
• NCBI Official Synonym Full Names: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
• NCBI Official Symbol: HPS3
• NCBI Official Synonym Symbols: SUTAL; BLOC2S1
• NCBI Protein Information: Hermansky-Pudlak syndrome 3 protein
• UniProt Protein Name: Hermansky-Pudlak syndrome 3 protein
• Protein Family: Hermansky-Pudlak syndrome 3 protein
• UniProt Gene Name: HPS3
• UniProt Entry Name: HPS3_HUMAN

NCBI Description

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

Uniprot Description

HPS3: Involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of Hermansky-Pudlak syndrome type 3 (HPS3). 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: 3q24

Biological Process: pigmentation; organelle organization and biogenesis

Disease: Hermansky-pudlak Syndrome 3