SLC22A5

GENE INFORMATION

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Gene name

SLC22A5 (HGNC Symbol)

Synonyms

CDSP, OCTN2, SCD

Description

Solute carrier family 22 (organic cation/carnitine transporter), member 5 (HGNC Symbol)

Entrez gene 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]

Chromosome

5

Cytoband

q31.1

Chromosome location (bp)

131705444 - 131731306

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197375 (version 75.37)

Entrez gene

6584

UniProt

O76082 (UniProt - Evidence at protein level)

neXtProt

NX_O76082

Antibodypedia

SLC22A5 antibodies
 

PROTEIN VIEW

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SLC22A5-001
 
SLC22A5-002
 
SLC22A5-004
 
SLC22A5-005
 
SLC22A5-008
 
SLC22A5-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC22A5-001 ENSP00000245407
ENST00000245407
O76082
Show all »
Show » Show » 557 62.8 No >9
SLC22A5-002 ENSP00000401860
ENST00000448810
Show » Show » 136 15.5 No 2
SLC22A5-004 ENSP00000388838
ENST00000415928
H7BZC0
Show all »
Show » Show » 240 27 No 5
SLC22A5-005 ENSP00000389284
ENST00000447841
Show » 37 4.3 No 0
SLC22A5-008 ENSP00000400553
ENST00000437841
F8WCC9
Show all »
Show » 141 15.9 No 1
SLC22A5-201 ENSP00000402760
ENST00000435065
O76082
Show all »
Show » Show » 581 65.3 No >9