1t3g
From Proteopedia
Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of human IL-1RAPL
Structural highlights
DiseaseIRPL1_HUMAN Defects in IL1RAPL1 are the cause of mental retardation X-linked type 21 (MRX21) [MIM:300143. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.[1] [2] FunctionIRPL1_HUMAN 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 presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.[3] [4] Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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