SLC6A14, Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+, Amino acid transporter ATB0+, Solute carrier family 6 member 14
This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010],disease:Genetic variations in SLC6A14 may be associated with susceptibility to X-linked obesity (OBX) [MIM:300306]. Obesity has been shown to predispose to disorders such as type 2 diabetes, coronary heart disease, hypertension, osteoarthritis, and certain cancers. Common forms of obesity are most likely caused by multiple genetic and environmental factors, and their interactions.,function:Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner.,miscellaneous:Transport inhibited by BCH (2-aminobicyclo-[2.2.1]-heptane-2-carboxylic acid).,similarity:Belongs to the sodium:neurotransmitter symporter (SNF) family.,tissue specificity:Levels are highest in adult and fetal lung, in trachea and salivary gland. Lower levels detected in mammary gland, stomach and pituitary gland, and very low levels in colon, uterus, prostate and testis.,
