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IQSEC2 IQ motif and Sec7 domain 2

Also known as: MRX1; BRAG1; MRX18; MRX78

Summary

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. [provided by RefSeq, Aug 2011]

Associated conditions

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DescriptionTests
Mental retardation, X-linked 1
MedGen: C2931498GeneReviews: Not available
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Genomic context

Location:
Xp11.22
Sequence:
Chromosome: X; NC_000023.11 (53225784..53321350, complement)
Total number of exons:
22

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