Gene: SLC22A5

Alternate names for this Gene: CDSP|OCTN2

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. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: solute carrier family 22 member 5

Type of Gene: protein-coding

Gene: MIR3936HG

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs60978556 in SLC22A5;MIR3936HG gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908892 in SLC22A5;MIR3936HG gene and Renal carnitine transport defect PMID 15714519 2005 Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

PMID 16652335 2006 Pharmacological rescue of carnitine transport in primary carnitine deficiency.

PMID 10679939 2000 A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

PMID 11715001 2002 Phenotype and genotype variation in primary carnitine deficiency.

PMID 10480371 1999 Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

PMID 10612840 2000 Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

PMID 10559218 1999 Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.

PMID 10545605 1999 Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.

PMID 10425211 1999 Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.

PMID 10072434 1999 Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

PMID 16931768 2006 Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

PMID 20027113 2010 Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

PMID 28841266 2017 Functional and molecular studies in primary carnitine deficiency.

PMID 15617188 2004 Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

PMID 21922592 2012 Genotype-phenotype correlation in primary carnitine deficiency.

PMID 20074989 2010 Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

PMID 11058897 2000 Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

PMID 17126586 2007 Expanded newborn screening identifies maternal primary carnitine deficiency.

PMID 20574985 2010 Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

PMID 21864509 2011 Functional analysis of pharmacogenetic variants of human organic cation/carnitine transporter 2 (hOCTN2) identified in Singaporean populations.

PMID 12210323 2002 Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

PMID 2235122 1990 Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.

PMID 16830263 2006 Pericardial effusion in primary systemic carnitine deficiency.

PMID 23379544 2014 Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.

PMID 23963628 2014 Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.

PMID 23653224 2014 Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

PMID 25846890 2015 Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.

PMID 27896095 2014 Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

PMID 25665836 2015 Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation.

PMID 25132046 2014 Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

PMID 24746540 2014 Primary carnitine deficiency cardiomyopathy.