製品の概要

製品の詳細

  • 由来Synthetic
  • アミノ酸配列
    • 生物種Human
    • 配列C-KTLSDKSREAKVK
    • 領域21 to 33

特性

Our Abpromise guarantee covers the use of ab50456 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • アプリケーション

    Blocking

  • 製品の状態Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

関連情報

  • 別名
    • DTBP1_HUMAN
    • DTNBP1
    • Dysbindin
    • Dysbindin-1
    • Dystrobrevin binding protein 1
    • Dystrobrevin-binding protein 1
    • Hermansky Pudlak syndrome 7 protein
    • Hermansky-Pudlak syndrome 7 protein
    • HPS7
    • HPS7 protein
    see all
  • 機能The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. May be required for normal dopamine homeostasis in the cerebral cortex, hippocampus, and hypothalamus. Plays a role in the regulation of cell surface exposure of DRD2. Contributes to the regulation of dopamine signaling. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation.
  • 組織特異性Detected in brain, in neurons and in neuropil. Detected in dentate gyrus and in pyramidal cells of hippocampus CA2 and CA3 (at protein level).
  • 関連疾患Defects in DTNBP1 are the cause of Hermansky-Pudlak syndrome type 7 (HPS7) [MIM:203300]. 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.
  • 配列類似性Belongs to the dysbindin family.
  • 翻訳後修飾Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation.
    Phosphorylated by PRKDC.
  • 細胞内局在Cytoplasm. Cytoplasmic vesicle membrane. Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Endosome membrane. Melanosome membrane. Nucleus. Cell junction > synapse > postsynaptic cell membrane > postsynaptic density. Endoplasmic reticulum. Detected in neuron cell bodies, axons and dendrites. Detected at synapses, at post-synaptic density, at pre-synaptic vesicle membranes and microtubules. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells.
  • Information by UniProt

Human Dysbindin peptide (ab50456) 使用論文

ab50456 has not yet been referenced specifically in any publications.

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