Gene Symbol | IQSEC2 |
Entrez Gene ID | 23096 |
Full Name | IQ motif and Sec7 domain 2 |
Synonyms | BRAG1,MRX1,MRX18,MRX78 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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 cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked 1/78, 309530 (3) |