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May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in neurite outgrowth. During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD.
Gene References into Functions
Our study revealed that the expression of IL-1R8 significantly increased on in vitro-activated CD4+ T cells and was markedly higher on CD4+ T cells from allergic rhinitis patients than on cells from healthy controls. PMID: 29730558
IL-1R8 serves as a checkpoint for NK cell maturation and effector function; its genetic blockade unleashes NK-cell-mediated resistance to hepatic carcinogenesis, haematogenous liver and lung metastasis, and cytomegalovirus infection in mice PMID: 29072292
Altered DNA methylation in IL1RAPL1 involves in the etiology of Bipolar disorder and Major Depressive disorder . PMID: 27440233
rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 production in Latin American children. PMID: 28120837
Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype PMID: 27470653
It was indicated that a defect in IL1RAPL1 that controls excitatory synapsis formation results in the excitation-inhibition balance affecting various cerebral functions. PMID: 25864829
The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling. PMID: 21926414
The IL1RAPL1 gene is of interest as a candidate gene for autism spectrum disorder as mutations or deletions in the gene have previously been reported in individuals from families with ASD. PMID: 21491612
Intragenic deletions in IL1RAPL1are relevant to the pathogenesis of X-linked mental retardation. PMID: 21271657
crystal structure at 2.3-A resolution of the TIR domain of IL-1RAPL PMID: 15123616
Nearly all patients with deletions involving DAX1, but not DMD, had mental retardation if IL1RAPL1 was deleted. If ILIRAPLI & DMD were intact, the patients with DAX1 deletions only rarely had normal development. PMID: 15300857
Report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males. PMID: 16470793
DMD gene and its immediately distal neighbor, the 1.8 Mb IL1RAPL1 gene are abundantly expressed in normal brain but were dramatically underexpressed in every brain tumor cell line and xenograft. PMID: 18253029
Combined data suggested that IL1RAPL1 affected human cognitive ability to some extent, especially the memory and concentration capability. PMID: 18467032
The function of truncated IL1RAPL1 protein in an autistic female with Asperger syndrome is severely altered in hippocampal neurons, demonstrated by its effect on neurite outgrowth activity. PMID: 18801879
IL1RAPL1 plays an important role in the etiology of X-linked mental retardation. PMID: 19012350
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Involvement in disease
Mental retardation, X-linked 21 (MRX21)
Subcellular Location
Cell membrane; Single-pass type I membrane protein. Cytoplasm. Cell projection, axon. Cell projection, dendrite.
Protein Families
Interleukin-1 receptor family
Tissue Specificity
Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal live