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IQSEC2 encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. Additionally we are shipping and many more products for this protein.
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argue that it is clinically appropriate to test for IQSEC2 mutations in male and female patients with this symptom profile but without a known genetic mutation
the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2 (show TSPYL2 Antibodies), KDM5C (show KDM5C Antibodies) and IQSEC2, is reported.
both Arf6 (show ARF6 Antibodies) activation through GluN2B (show GRIN2B Antibodies)-BRAG1 during early development and the transition from BRAG1- to BRAG2 (show IQSEC1 Antibodies)-dependent Arf6 (show ARF6 Antibodies) signaling induced by the GluN2 subunit switch are critical for the development of mature glutamatergic synapses.
This study demonstrates a dual role of BRAG1 in synaptic function.
Truncating mutations in IQSEC2 are responsible for syndromic severe intellectual disability in male patients.
data supports recently published data suggesting that IQSEC2 plays a more significant role in the development of X-linked intellectual disability with seizures than previously anticipated.
Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor (show RASGRF1 Antibodies) for the ADP-ribosylation factor (show ARF1 Antibodies) family of small GTPases, caused this disorder
Our present findings suggest that IQ-ArfGEF/BRAG1 may play roles downstream of NMDA receptors through the interaction with multivalent PSD (show PSD Antibodies) proteins such as IRSp53 (show BAIAP2 Antibodies) and PSD-95 (show DLG4 Antibodies).(BRAG1 PROTEIN, MOUSE)
Iqsec2 (BRAG2 (show IQSEC1 Antibodies))-mediated Arf6 (show ARF6 Antibodies) activation triggered by AMPA (show GRIA3 Antibodies) receptors is the convergent step of different forms of long-term depression and provides an essential mechanism for the control of vesicle formation by endocytic cargo.
This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
IQ motif and SEC7 domain-containing protein 2
, brefeldin A resistant Arf-guanine nucleotide exchange factor 1
, brefeldin A resistant Arf-guanine nucleotide exchange factor 1b
, brefeldin A resistant Arf-guanine nucleotide exchange factor 1c