Function
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling.
Biological Context
Subcellular Location: Membrane (Single-pass type I membrane protein); Cell membrane
Tissue Specificity: Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta
Disease Association: Developmental and epileptic encephalopathy 110 (DEE110) : A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Voltage-dependent calcium channel subunit alpha-2/delta-1 (CACNA2D1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 528-668aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 32.3kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
