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Rabbit Anti-Slc22a5/FITC Conjugated antibody
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. [provided by RefSeq, Jul 2008].
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.
Subunit:
Interacts with PDZK1.
Subcellular Location:
Membrane; Multi-pass membrane protein.
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.
DISEASE:
Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP) [MIM:212140]. CDSP is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.
Similarity:
Belongs to the major facilitator (TC 2.A.1)
Database links:
Entrez Gene: 6584 Human
Entrez Gene: 29726 Rat
Omim: 603377 Human
SwissProt: O76082 Human
SwissProt: O70594 Rat
Unigene: 443572 Human
Unigene: 8844 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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