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SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003060 Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol SLC22A5
Entrez Gene ID 6584
Full Name solute carrier family 22 (organic cation/carnitine transporter), member 5
Synonyms CDSP, FLJ46769, OCTN2, OCTN2VT
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q31

Summary 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].
Disorder

MIM: 603377

Carnitine deficiency, systemic primary, 212140 (3)

mRNA Protein Product Sequence Price Select
NM_003060, 166064030 NP_003051, 4507005 solute carrier family 22 member 5 ORF Sequence $550.00
Reactome
REACT_22357Organic cation transport
REACT_15518Transmembrane transport of small molecules
REACT_19118SLC-mediated transmembrane transport
REACT_22345Organic cation/anion/zwitterion transport
REACT_19305Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
Homo sapiens (human)SLC22A5NP_003051.1
Pan troglodytes (chimpanzee)SLC22A5XP_003310855.1
Macaca mulatta (Rhesus monkey)SLC22A5XP_001103789.1
Canis lupus familiaris (dog)SLC22A5XP_860734.1
Bos taurus (cattle)SLC22A5NP_001039967.1
Mus musculus (house mouse)Slc22a5NP_035526.1
Rattus norvegicus (Norway rat)Slc22a5NP_062142.1
Danio rerio (zebrafish)slc22a4NP_957143.1
Arabidopsis thaliana (thale cress)2-OctNP_178054.1
Arabidopsis thaliana (thale cress)3-OctNP_173089.1
GeneCards SLC22A5
UniProt O76082
MIM 603377
Ensembl ENSG00000197375
HGNC 10969
HPRD 04539

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
solute carrier family 22 member 5
Names
solute carrier family 22 member 5
organic cation/carnitine transporter 2
high-affinity sodium dependent carnitine cotransporter

Interactant



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