Description
Product Characteristics: Involvement in disease: Note=A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv3(q25,q29). The inversion produces a disruption of the protein. Subcellular location: Membrane, Multi-pass membrane protein. Lysosome Tissue specificity: Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen.,Cation Transporters,Probable cation-transporting ATPase 13A4, P5-ATPase isoform 4
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