Function
Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons.
Biological Context
Subcellular Location: Golgi apparatus membrane (Multi-pass membrane protein); Cell projection, ruffle membrane (Multi-pass membrane protein)
Tissue Specificity: Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Also expressed in tracheal and alveolar epithelial cells, and intima and media of the pulmonary vessels. Expressed in bronchus and colon (at protein level)
Disease Association: Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) : An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. [The disease is caused by variants affecting the gene represented in this entry] | Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) : An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human H (+)/Cl (-) exchange transporter 3 (CLCN3) Protein is a recombinant protein from Homo sapiens (Human), expressed in in vitro E.coli expression system, covering amino acids 1-818aa, with C-terminal 6xHis-tagged tag, molecular weight 93.2kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
