Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
Gene References into Functions
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
Involvement in disease
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.