Variant SLC6A14 cotransports SLC6A14 ligands, Cl-, 2Na+ from extracellular region to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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SLC6A14, associated with the plasma membrane, mediates the uptake of multiple basic and nonpolar amino acids as well as beta-alanine. Uptake of one amino acid molecule is accompanied by uptake of two sodium ions and a chloride ion. As assessed by Northern blotting, SLC6A14 is expressed at high levels in lung but only at low levels, if at all, in intestine or kidney. Variations in SLC6A14 may be associated with obesity (BMIQ11; MIM:300306) in some populations. SLC6A14 is an interesting candidate for obesity because it may potentially regulate tryptophan availability for serotonin synthesis and thus could affect appetite control. Variations that may contribute to BM1Q11 are SNPs 22510 C-G and 20649 C-T (Suviolahti et al. 2003, Durand et al. 2004).

Literature References
PubMed ID Title Journal Year
15331564 Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians

Durand, E, Dina, C, Meyre, D, Boutin, P, Charles, MA, Clément, K, Froguel, P

Diabetes 2004
14660752 The SLC6A14 gene shows evidence of association with obesity

Salomaa, V, Silander, K, Groop, L, Kontula, K, Kilpikari, R, Tuomi, T, Kaprio, J, Vartiainen, E, Ridderstrale, M, Cantor, RM, Ohman, M, Rissanen, A, Suviolahti, E, Oksanen, LJ, Pajukanta, P, Mustajoki, P, Jousilahti, P, Peltonen, L

J. Clin. Invest. 2003
Catalyst Activity

amino acid transmembrane transporter activity of SLC6A14 variants [plasma membrane]

Normal reaction
Functional status

Partial loss of function of SLC6A14 variants [plasma membrane]

Name Identifier Synonyms
obesity DOID:9970
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