Rabbit anti-Human SLC22A5 Polyclonal Antibody

Uniprot Id

O76082

Target Species

Human

Target Name

SLC22A5

Target Full Name

Organic cation/carnitine transporter 2

Target Function

Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.

Target Involvement

Systemic primary carnitine deficiency (CDSP)

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

Major facilitator (TC 2.A.1) superfamily, Organic cation transporter (TC 2.A.1.19) family

Target Tissue Specificity

Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.

Target Synonyms

CDSP; High-affinity sodium-dependent carnitine cotransporter; OCTN2; OCTN2VT; Organic cation/carnitine transporter 2; S22A5_HUMAN; Slc22a5; Solute carrier family 22 (organic cation/carnitine transporter) member 5; Solute carrier family 22 member 5

Target Background

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants.