IQSEC2 Antibody – Rabbit Polyclonal

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]

IQSEC2: Defects in IQSEC2 are the cause of mental retardation X- linked type 1 (MRX1). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. Belongs to the BRAG family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: GEFs, ARF; GEFs

Chromosomal Location of Human Ortholog: Xp11.22

Cellular Component: trans-Golgi network; cell junction; nucleus

Molecular Function: ARF guanyl-nucleotide exchange factor activity

Biological Process: vesicle-mediated transport; regulation of ARF protein signal transduction; actin cytoskeleton organization and biogenesis; positive regulation of GTPase activity

Disease: Mental Retardation, X-linked 1