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Description
Immunogen sequence: LWQGINLVLL TRSPSAPLAL VLSQLMDGFS MLEKKLKEGP EPGASLRSQP LVGDLRQRMD KFVKNRGAQE IQSTWLEFKA KAFSK Highest antigen sequence identity to the following orthologs: Mouse - 75%, Rat - 74%.
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. There are 10 HPS genes encoding HPS proteins that all interact within three distinct ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in these genes cause HPS. HSP-1 is a component of multiple cytoplasmic organelles and is important for their normal development and function. It plays a role in intracellular protein sorting.
Specifications
Specifications
| Antigen | HPS1 |
| Applications | Immunohistochemistry (Paraffin) |
| Classification | Polyclonal |
| Concentration | 0.4 mg/mL |
| Conjugate | Unconjugated |
| Formulation | PBS with 40% glycerol and 0.02% sodium azide; pH 7.2 |
| Gene | HPS1 |
| Gene Accession No. | Q92902 |
| Gene Alias | 6030422N11Rik; BB405864; BLOC3S1; ep; Gm21361; Hermansky-Pudlak syndrome 1 homolog (human); Hermansky-Pudlak syndrome 1 protein; Hermansky-Pudlak syndrome 1 protein homolog; Hermansky-Pudlak syndrome protein homolog; HPS; HPS1; HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; MGC5277; pale ear |
| Gene Symbols | HPS1 |
| Show More |
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