NPT2b Polyclonal Antibody, 20ul Protein Expression Mutations in ACTA1 cause nemaline

Mutations in ACTA1 cause nemaline myopathy type 3

GO annotations related to this gene include nucleotide binding and calmodulin binding

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Defects in this gene cause complement factor I deficiency

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NPT2b Polyclonal Antibody, 20ul Protein Expression Mutations in ACTA1 cause nemalineSodium dependent phosphate transport protein 2B encoded by SLC34A2 is a pH sensitive sodium dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene.