Hermansky-Pudlak Syndrome 3 (HPS3) (C-Term) antibody

Details for Product No. ABIN374450
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Synonyms HPS3, SUTAL
(17), (14), (11), (3), (1)
(42), (6), (3)
(27), (15), (1)
(3), (3), (3), (3), (3), (3)
Western Blotting (WB)
(42), (27), (6), (3), (2), (2), (2), (1), (1)
Pubmed 2 references available
Quantity 0.1 mg
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Catalog No. ABIN374450
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Immunogen Peptide from the C Terminus of the protein sequence according to NP_115759
Specificity This antibody recognizes HPS3/Cocoa
Cross-Reactivity (Details) Species reactivity (tested):Human.
Purification Ammonium Sulphate Precipitation followed by antigen Affinity Chromatography using the immunizing peptide.
Alternative Name HPS3
Background HPS3 is involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of the cocoa (coa) mutant, and of Hermansky-Pudlak syndrome type 3 (HPS3). HPS3 is an 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.Synonyms: Hermansky-Pudlak syndrome 3
Gene ID 84343
NCBI Accession NP_115759
UniProt Q969F9
Research Area Signaling
Application Notes Peptide ELISA: > 1/32,000. Western Blot: 1-3 μg/mL. Detects a band of Approx 110 kDa in A431 cell lysate(Predicted Molecular Weight: 114 kDa).
Other applications not tested.
Optimal dilutions are dependent on conditions and should be determined by the user.
Restrictions For Research Use only
Concentration 0.5 mg/mL
Buffer Tris saline, pH 7.3 containing 0.02 % Sodium Azide as preservative and 0.5 % BSA as stabilizer.
Preservative Sodium azide
Precaution of Use This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Handling Advice Avoid repeated freezing and thawing.
Storage -20 °C
Storage Comment Store the antibody (in aliquots) at -20 °C.
Supplier Images
anti-Hermansky-Pudlak Syndrome 3 (HPS3) (C-Term) antibody anti-Hermansky-Pudlak Syndrome 3 (HPS3) (C-Term) antibody
Background publications Smeazzetto, Schröder, Thiel et al.: "Phospholamban generates cation selective ion channels." in: Physical chemistry chemical physics : PCCP, Vol. 13, Issue 28, pp. 12935-9, 2011 (PubMed).

Gautam, Chintala, Li et al.: "The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)." in: The Journal of biological chemistry, Vol. 279, Issue 13, pp. 12935-42, 2004 (PubMed).

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