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Rabbit Anti-IQSEC2/FITC Conjugated antibody
background:
IQSEC2 is a 1,478 amino acid protein that belongs to the BRAG family and contains one IQ domain, one PH domain and a SEC7 domain. Localizing to the cytoplasm, IQSEC2 is expressed in brain, kidney and small intestine, with weaker levels of expression in placenta, pancreas, ovary, prostate and liver. IQSEC2 is a component of the postsynaptic density at excitatory synapses, and interacts with ARF family members as a guanine nucleotide exchange factor. Through the activation of ARF substrates, IQSEC2 may play a crucial role in cytoskeletal and synaptic organization. The gene encoding IQSEC2 maps to the human X chromosome. Defects to the IQSEC2 gene have been linked to mental retardation X-linked type 1 (MRX1), a condition characterized by decreased intellectual function. IQSEC2 exists as three isoforms due to alternative splicing events.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.
DISEASE:
Defects in IQSEC2 are the cause of mental retardation X-linked type 1 (MRX1) [MIM:309530]. 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.
Similarity:
Belongs to the BRAG family.
Contains 1 IQ domain.
Contains 1 PH domain.
Contains 1 SEC7 domain.
Database links:
Entrez Gene: 23096 Human
Omim: 300522 Human
SwissProt: Q5JU85 Human
Unigene: 496138 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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