Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
2 autism-spectrum-disorder patients had distinct, paternally inherited, heterozygous, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) shared by their affected siblings. These variants had deficits in morphological and electrophysiological assays. PMID: 23711981
相關(guān)疾?。?/div>
PRICKLE2 mutations have been found in patients with myoclonic epilepsy but involvement of this gene in pathogenesis is under debate since some of the patients also carry POLG mutations.
亞細(xì)胞定位:
Nucleus membrane.
蛋白家族:
Prickle / espinas / testin family
組織特異性:
Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors.