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Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous, autosomal recessive disorder. It is characterized by oculocutaneous albinism, lysosomal storage defects and prolonged bleeding due to platelet storage pool deficiency. HPS is a result of defects in various cytoplasmic organelles such as melanosomes, platelet dense granules and lysosomes. The HPS proteins, including HPS-1-6 and Dysbindin (also designated HPS-7), all interact within three distinct, ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in the genes encoding for these proteins are the cause of HPS. Dysbindin binds to dystrobrevins in the dystrophin-associated protein complex (DPC) complex. Dysbindin is a cytoplasmic protein. Isoforms 1 and 2 are the result of alternative splicing.
Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps Dysbindin (B-5) | sc-398872 | 200 µg/ml | $316.00 | |||
Dysbindin (B-5): m-IgGλ BP-HRP Kit | sc-524515 | 200 µg Ab, 40 µg BP | $354.00 |