solute carrier family 6 member 10 (SLC6A19, Na+ dependent neutral amino acid transporter B0, system B0 neutral amino acid transporter, B0AT1)

Function

• mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in kidney & intestine
• leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter
• uptake of leucine is Na+ dependent
• in contrast to other members of the SNF family, does not appear to be chloride-dependent

Structure

• belongs to the Na+:neurotransmitter symporter (SNF) family

Compartment

membrane

Expression

• expressed in kidney & small intestine >> pancreas
• expressed in stomach, liver, duodenum, ileocecum, colon & prostate
• not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung

Pathology

• defects in SLC6A19 are a cause of Hartnup disorder

More general terms

• solute carrier family 6

Additional terms

• Hartnup disease

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3400
• OMIM: https://mirror.omim.org/entry/608893
• OMIM: https://mirror.omim.org/entry/234500
• UniProt: http://www.uniprot.org/uniprot/Q695T7.html