SLC22A5 Chromosome 5
Solute carrier family 22 member 5
Upload your DNA to see your personal genotypes for variants in SLC22A5.
What This Gene Does
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. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Solute carrier family 22
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000197375
Associated Conditions (19)
Renal carnitine transport defect
SLC22A5-related disorder
See cases
Acute rhabdomyolysis
Nonpapillary renal cell carcinoma
Decreased circulating carnitine concentration
Inborn genetic diseases
Abnormality of the nervous system
High myopia
Colorectal cancer
Ovarian serous cystadenocarcinoma
Colon adenocarcinoma
Gastric cancer
Familial cancer of breast
Malignant tumor of urinary bladder
Carnitine deficiency
Dilated cardiomyopathy 1A
Congenital myasthenic syndrome 20
Papillary renal cell carcinoma type 1
Key Variants
RS1045644394
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
RS11568513
Conflicting classifications of pathogenicity
Renal carnitine transport defect, SLC22A5-related disorder, Renal carnitine transport defect
Health Risk
RS11568514
Conflicting classifications of pathogenicity
Renal carnitine transport defect, See cases, Acute rhabdomyolysis
Health Risk
RS1169005119
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
RS1180267143
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
RS1183338050
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
RS1189776349
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
RS121908893
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect, Nonpapillary renal cell carcinoma
Health Risk
RS1319889867
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
RS1321621475
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Decreased circulating carnitine concentration, Inborn genetic diseases
Health Risk
RS1335556134
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Decreased circulating carnitine concentration, Renal carnitine transport defect
Health Risk
RS1385634398
Conflicting classifications of pathogenicity
Renal carnitine transport defect, Renal carnitine transport defect
Health Risk
All Variants (301)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2532117630 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS2532134216 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS2532134878 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS2532138779 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS2532141227 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS2532141714 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS377767443 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS377767444 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS377767447 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS377767449 | Health Risk | Pathogenic | Renal carnitine transport defect, Decreased circulating carnitine concentration, Congenital myasthenic syndrome 20 |
| RS386134195 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134200 | Health Risk | Pathogenic | Renal carnitine transport defect, Decreased circulating carnitine concentration, Renal carnitine transport defect |
| RS386134201 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134202 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134204 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134210 | Health Risk | Pathogenic | Renal carnitine transport defect, Inborn genetic diseases, SLC22A5-related disorder |
| RS386134212 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134217 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134222 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect, Renal carnitine transport defect |
| RS386134225 | Health Risk | Pathogenic | Renal carnitine transport defect, SLC22A5-related disorder, Renal carnitine transport defect |
| RS386134226 | Health Risk | Pathogenic | Renal carnitine transport defect, Papillary renal cell carcinoma type 1, Renal carnitine transport defect |
| RS386134227 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS553647459 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS569268772 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS57262206 | Health Risk | Pathogenic | Renal carnitine transport defect, SLC22A5-related disorder, Inborn genetic diseases |
| RS68018207 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552725 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552727 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552731 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS72552732 | Health Risk | Pathogenic | Renal carnitine transport defect, Inborn genetic diseases, Decreased circulating carnitine concentration |
| RS756863825 | Health Risk | Pathogenic | Renal carnitine transport defect, Decreased circulating carnitine concentration, Renal carnitine transport defect |
| RS774971089 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect, Renal carnitine transport defect |
| RS796052039 | Health Risk | Pathogenic | Renal carnitine transport defect, Carnitine deficiency, Renal carnitine transport defect |
| RS878853248 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS886041277 | Health Risk | Pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS886041967 | Health Risk | Pathogenic | — |
| RS1022453298 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1057516797 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1057516805 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1057517069 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1057517106 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS114269482 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Acute rhabdomyolysis, Renal carnitine transport defect |
| RS1157198543 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1178584184 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS121908888 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Decreased circulating carnitine concentration, Renal carnitine transport defect |
| RS121908890 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS121908892 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1266953756 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS1408166345 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |
| RS144547521 | Health Risk | Pathogenic/Likely pathogenic | Renal carnitine transport defect, Renal carnitine transport defect |