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IQSEC2 encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins.
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IQSEC2 mutation is associated with syndromic intellectual disability.
A truncating variant in IQSEC2 identified as a cause of fatal epileptic encephalopathy in two sisters. The IQSEC2 variant was identified in both surviving affected sisters but in neither parent.
A novel splicing variant in IQSEC2 co-segregates in a family with an X-linked form of intellectual disability.
In the asymptomatic mother, the mutated copy of the CDKL5 (show CDKL5 Antibodies) gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 (show KCNA2 Antibodies) in a girl with infantile-onset seizures variant of Rett syndrome (RTT)
This study demonstrated that IQSEC2 pathogenic variants are an important cause of epilepsy in intellectually disabled individuals from both genders. It can frequently manifest as an early onset EE.
identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1 (show DEAF1 Antibodies)
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.
The observations of this study provide support for dosage sensitivity for IQSEC2, which normally escapes X-inactivation in humans and for the first time links these disturbances in expression with specific alterations to the morphology of developing neurons.
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