Description
Antibody Name: | HPS3 Antibody (PACO09790) |
Antibody SKU: | PACO09790 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB, IHC |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human HPS3 |
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 3;HPS3;DKFZp686F0413;FLJ22704;SUTAL ; |
UniProt Protein Function: | 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: VesicleChromosomal Location of Human Ortholog: 3q24Biological Process: pigmentation; organelle organization and biogenesisDisease: Hermansky-pudlak Syndrome 3 |
UniProt Protein Details: | |
NCBI Summary: | 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, Jul 2008] |
UniProt Code: | Q969F9 |
NCBI GenInfo Identifier: | 20532121 |
NCBI Gene ID: | 84343 |
NCBI Accession: | Q969F9.1 |
UniProt Secondary Accession: | Q969F9,Q8WTV6, Q96AP1, Q96MR3, Q9H608, A8K6G6 |
UniProt Related Accession: | Q969F9 |
Molecular Weight: | 1004 |
NCBI Full Name: | Hermansky-Pudlak syndrome 3 protein |
NCBI Synonym Full Names: | Hermansky-Pudlak syndrome 3 |
NCBI Official Symbol: | HPS3 |
NCBI Official Synonym Symbols: | SUTAL |
NCBI Protein Information: | Hermansky-Pudlak syndrome 3 protein |
UniProt Protein Name: | Hermansky-Pudlak syndrome 3 protein |
UniProt Synonym Protein Names: | |
Protein Family: | Hermansky-Pudlak syndrome 3 protein |
UniProt Gene Name: | HPS3 |
UniProt Entry Name: | HPS3_HUMAN |