Function
Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels. May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases.
Biological Context
Subcellular Location: Cytoplasm, cytosol; Membrane (Peripheral membrane protein)
Tissue Specificity: Brain specific
Disease Association: Dystonia 2, torsion, autosomal recessive (DYT2) : A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Neuron-specific calcium-binding protein hippocalcin (HPCA) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 2-193aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 29.7kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
