The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 307 kDa.
Use at an assay dependent concentration.
Use a concentration of 10 µg/ml. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
FunctionIntracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate.
Tissue specificityWidely expressed.
Involvement in diseaseDefects in ITPR1 are the cause of spinocerebellar ataxia type 15 (SCA15) (SCA15) [MIM:606658]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.
Sequence similaritiesBelongs to the InsP3 receptor family. Contains 5 MIR domains.
DomainThe receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.
Post-translational modificationsPhosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels. Phosphorylated on tyrosine residues.