Anti-SLC5A7 Antibody Picoband® Fluoro488 Conjugated

The high-affinity choline transporter (ChT) also known as solute carrier family 5 member 7 is a protein in humans that is encoded by the SLC5A7 gene. This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants.

Transcription factor MafA; Pancreatic beta-cell-specific transcriptional activator; RIPE3b1 factor; V-maf musculoaponeurotic fibrosarcoma oncogene homolog A; MAFA

Transcription factor that activates insulin gene expression. Acts synergistically with NEUROD1/BETA2 and PDX1. Binds the insulin enhancer C1/RIPE3b element. Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence.

1. Apparsundaram, S., Ferguson, S. M., George, A. L., Jr., Blakely, R. D. Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. Biochem. Biophys. Res. Commun. 276: 862-867, 2000. 2. Barwick, K. E. S., Wright, J., Al-Turki, S., McEntagart, M. M., Nair, A., Chioza, B., Al-Memar, A., Modarres, H., Reilly, M. M., Dick, K. J., Ruggiero, A. M., Blakely, R. D., Hurles, M. E., Crosby, A. H. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am. J. Hum. Genet. 91: 1103-1107, 2012. 3. Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., and 30 others. Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea. Am. J. Hum. Genet. 99: 753-761, 2016.