The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA662359(VPS45 Antibody) at dilution 1/35, on the right is treated with fusion protein. (Original magnification: ×200)
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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
基因功能參考文獻:
A homozygous VPS45 p.E238K mutation is associated with severe congenital neutropenia with neurological impairment. PMID: 26358756
we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia. PMID: 23599270
Defective endosomal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodeficiency syndrome involving impaired neutrophil function. PMID: 23738510
Data implicate hVps45 and Rabenosyn-5 in post early endosome transport, and suggest that their interaction serves as a nexus to promote bidirectional transport along the endosome-to-recycling compartment and endosome-to-Golgi axes. PMID: 19931244
相關(guān)疾病:
Neutropenia, severe congenital 5, autosomal recessive (SCN5)
Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liver.