Structural highlights
Disease
[IQEC2_HUMAN] Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome;X-linked non-syndromic intellectual disability. The disease is caused by mutations affecting the gene represented in this entry.
Function
[IQEC2_HUMAN] Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.[1] [ARF1_HUMAN] GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles.
References
- ↑ Kalscheuer VM, James VM, Himelright ML, Long P, Oegema R, Jensen C, Bienek M, Hu H, Haas SA, Topf M, Hoogeboom AJ, Harvey K, Walikonis R, Harvey RJ. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Front Mol Neurosci. 2016 Jan 11;8:85. doi: 10.3389/fnmol.2015.00085. eCollection , 2015. PMID:26793055 doi:http://dx.doi.org/10.3389/fnmol.2015.00085
