Page last updated: 2024-10-06

Amino acid transport defects (IEMs)

Proteins (9)

ProteinSynonymsTaxonomy
Excitatory amino acid transporter 3Excitatory amino-acid carrier 1; Neuronal and epithelial glutamate transporter; Sodium-dependent glutamate/aspartate transporter 3; Solute carrier family 1 member 1Homo sapiens (human)
4F2 cell-surface antigen heavy chain4F2hc; 4F2 heavy chain antigen; Lymphocyte activation antigen 4F2 large subunit; Solute carrier family 3 member 2Homo sapiens (human)
b(0,+)-type amino acid transporter 1b(0,+)AT1; Glycoprotein-associated amino acid transporter b0,+AT1; Solute carrier family 7 member 9Homo sapiens (human)
Neutral and basic amino acid transport protein rBATNBAT; D2h; Solute carrier family 3 member 1; b(0,+)-type amino acid transport proteinHomo sapiens (human)
Proton-coupled amino acid transporter 2Proton/amino acid transporter 2; Solute carrier family 36 member 2; Tramdorin-1Homo sapiens (human)
Sodium-dependent neutral amino acid transporter B(0)AT1Solute carrier family 6 member 19; System B(0) neutral amino acid transporter AT1Homo sapiens (human)
CollectrinTransmembrane protein 27Homo sapiens (human)
Sodium- and chloride-dependent transporter XTRP3Sodium/imino-acid transporter 1; Solute carrier family 6 member 20; Transporter rB21A homologHomo sapiens (human)
Y+L amino acid transporter 1Monocyte amino acid permease 2; MOP-2; Solute carrier family 7 member 7; y(+)L-type amino acid transporter 1; Y+LAT1; y+LAT-1Homo sapiens (human)

Compounds (22)

CompoundDescription
hydronium ion
TyrosineA non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
ValineA branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
ArginineAn essential amino acid that is physiologically active in the L-form.
AsparagineA non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue. It is biosynthesized from ASPARTIC ACID and AMMONIA by asparagine synthetase. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed)
chlorineAn element with atomic symbol Cl, atomic number 17, and atomic weight 35, and member of the halogen family.
glutamic acidA non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.
cysteineA thiol-containing non-essential amino acid that is oxidized to form CYSTINE.
CystineA covalently linked dimeric nonessential amino acid formed by the oxidation of CYSTEINE. Two molecules of cysteine are joined together by a disulfide bridge to form cystine.
aspartic acidOne of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
GlutamineA non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.
glycineA non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.
potassiumAn element in the alkali group of metals with an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte that plays a significant role in the regulation of fluid volume and maintenance of the WATER-ELECTROLYTE BALANCE.
racemethionineA preparation of METHIONINE that includes a mixture of D-methionine and L-methionine isomers.
SodiumA member of the alkali group of metals. It has the atomic symbol Na, atomic number 11, and atomic weight 23.
ProlineA non-essential amino acid that is synthesized from GLUTAMIC ACID. It is an essential component of COLLAGEN and is important for proper functioning of joints and tendons.
SerineA non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
polyhistidineRN refers to (L)-isomer; polyhistidine fusion tag, usually consisting of six consecutive histidines added to the end of a protein, allows easy purification with metal-chelate resins;
LeucineAn essential branched-chain amino acid important for hemoglobin formation.
endolysin
phenylalanineAn essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.
d-aspartic acidThe D-isomer of ASPARTIC ACID.