1110008L20Rik antibody; EF hand domain containing family member A1 antibody; EF hand domain family A1 antibody; EF hand domain family member A1 antibody; EF-hand domain-containing family member A1 antibody; EFHA1 antibody; EFHA1 EF hand domain family member A1 antibody; EFHA1_HUMAN antibody; FLJ25016 antibody; FLJ34588 antibody; Smhs2 homolog antibody
宿主:
Rabbit
反應(yīng)種屬:
Human
免疫原:
Recombinant Human Calcium uptake protein 2, mitochondrial protein (26-247AA)
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.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium. MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering.
基因功能參考文獻(xiàn):
MICU2 restricts spatial crosstalk between InsP3R and MCU channels by regulating threshold and gain of MICU1-mediated inhibition and activation of MCU. PMID: 29241542
MICU2 expression in the heart tissues from patients with ventricular hypertrophy. PMID: 29073106
study concludes that cooperative, high-affinity interaction of the MICU1-MICU2 complex with Ca(2+) serves as an on-off switch, leading to a tightly controlled channel, capable of responding directly to cytosolic Ca(2+) signals PMID: 28615291
This is the first demonstration of MICU2 deficiency in humans, which we suggest causes a distinct neurodevelopmental phenotype secondary to impaired mitochondrial calcium uniporter-mediated regulation of intracellular calcium homeostasis. PMID: 29053821
Expression of MICU2 mutants lacking functional Ca2+-binding sites leads to a striking loss of Ca2+ uptake in HEK293 cells. PMID: 24503055
MICU1 and MICU2 have roles in tuning the mitochondrial Ca2+ uniporter by exerting opposite effects on MCU activity PMID: 24560927
The results identify MICU2 as a new component of the uniporter complex that may contribute to the tissue-specific regulation of this channel. PMID: 23409044
regulation of MCU-mediated mitochondrial calcium handling PMID: 23409044
Observational study of gene-disease association. (HuGE Navigator) PMID: 20877624
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614