功能： disease:A genetic variation in transmembrane domain of IL7R is associated with susceptibility to multiple sclerosis (MS) [MIM:126200]. Overtransmission of the major 'C' allele coding for Thr-244 are detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either 'C' allele (Thr-244) or 'T' allele (Ile-244) shows that the 'C' allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated 'C' risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.,disease:Defects in IL7R are a cause of autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]. SCID refers to a genetically and clinically group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.,domain:The box 1 motif is required for JAK interaction and/or activation.,domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,function:Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).,online information:IL7R mutation db,sequence caution:Contaminating sequence. Potential poly-A sequence.,similarity:Belongs to the type I cytokine receptor family. Type 4 subfamily.,similarity:Contains 1 fibronectin type-III domain.,subunit:The IL7 receptor is an heterodimer of IL7R and IL2RG. The TSLP receptor is an heterodimer of CRLF2 and IL7R.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Cell membrane; Single-pass type I membrane protein.; [Isoform 4]: Secreted.
功能： disease:A genetic variation in transmembrane domain of IL7R is associated with susceptibility to multiple sclerosis (MS) [MIM:126200]. Overtransmission of the major 'C' allele coding for Thr-244 are detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either 'C' allele (Thr-244) or 'T' allele (Ile-244) shows that the 'C' allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated 'C' risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.,disease:Defects in IL7R are a cause of autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]. SCID refers to a genetically and clinically group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.,domain:The box 1 motif is required for JAK interaction and/or activation.,domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,function:Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).,online information:IL7R mutation db,sequence caution:Contaminating sequence. Potential poly-A sequence.,similarity:Belongs to the type I cytokine receptor family. Type 4 subfamily.,similarity:Contains 1 fibronectin type-III domain.,subunit:The IL7 receptor is an heterodimer of IL7R and IL2RG. The TSLP receptor is an heterodimer of CRLF2 and IL7R.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Cell membrane; Single-pass type I membrane protein.; [Isoform 4]: Secreted.
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