Human IQ motif and Sec7 domain 2 ELISA Kit | IQSEC2 elisa kit
Human IQ motif and SEC7 domain-containing protein 2, IQSEC2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on IQSEC2
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Product Notes
The Human IQSEC2 iqsec2 (Catalog #AAA9341842) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9341842 ELISA Kit recognizes Human IQSEC2. It is sometimes possible for the material contained within the vial of "IQ motif and Sec7 domain 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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