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Product Name TRAPPC2 Chinese Name SEDL蛋白抗体 Alias hYP38334; MBP 1 interacting protein 2A; MBP-1-interacting protein 2A; MIP 2A; MIP-2A; MIP2A; SEDL; Sedlin; SEDLP; SEDT; Spondyloepiphyseal dysplasia tarda protein; Spondyloepiphyseal dysplasia, late; TPC2A_HUMAN; Trafficking protein particle complex 2; Trafficking protein particle complex subunit 2; TRAPPC2P1; TRS20; ZNF547L. Research Area Cell biology Developmental biology Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Dog, Cow, Rabbit, Sheep, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 16kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human TRAPPC2: 71-140/140 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Function:
Prevents MBP1-mediated transcriptional repression and antagonizes MBP1-mediated cell death. May play a role in vesicular transport from endoplasmic reticulum to Golgi.
Subcellular Location:
Cytoplasm > perinuclear region. Endoplasmic reticulum. Golgi apparatus. Localized in perinuclear granular structures.
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in TRAPPC2 are the cause of spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]. SEDT is an X-linked recessive disorder of endochondral bone formation.
Similarity:
Belongs to the TRAPP small subunits family. Sedlin subfamily.
SWISS:
O14582
Gene ID:
6399
Database links:Entrez Gene: 6399 Human
Entrez Gene: 66050 Mouse
Entrez Gene: 66226 Mouse
Omim: 300202 Human
SwissProt: O14582 Human
SwissProt: P0DI81 Human
SwissProt: Q9CQP2 Mouse
Unigene: 592238 Human
Unigene: 622292 Human
Unigene: 279752 Mouse
Unigene: 35693 Mouse
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