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]
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
