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

rs11746555 in SLC22A5 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11746555 in SLC22A5 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11746555 in SLC22A5 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2073643 in SLC22A5 gene and Asthma PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

PMID 22561531 2012 Genome-wide association study to identify genetic determinants of severe asthma.

rs11746555 in SLC22A5 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10060615 in SLC22A5 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs2073643 in SLC22A5 gene and Fibrinogen assay PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

rs2073643 in SLC22A5 gene and Fibrinogen, CTCAE PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

rs17622208 in SLC22A5 gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs274555 in SLC22A5 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs1057517306 in SLC22A5 gene and Renal carnitine transport defect PMID 15523054 2005 PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2.

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

PMID 27931018 2016 Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.

PMID 23520115 2013 Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.

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

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

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

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

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

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

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

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

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

PMID 10072434 1999 Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary 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 10679939 2000 A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

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

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 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 28753539 2017 Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.

PMID 23430869 2012 Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary 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 10051646 1999 Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.

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

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 26828774 2016 Carnitine transport and fatty acid oxidation.

PMID 23090741 2012 SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.

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

PMID 12204000 2002 A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.

PMID 15303004 2004 OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?

PMID 26252091 2015 The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband.

PMID 17703373 2007 Additional molecular investigations identified two mutations (R254X and IVS3 + 1G > A) in the patient's OCTN2 (SLC22A5) gene, consistent with a diagnosis of primary carnitine deficiency due to carnitine transporter defect.

PMID 17594400 2007 Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation.

PMID 20208395 2010 Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore.

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

PMID 28711408 2017 Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

PMID 29790872 2018 Genomic sequencing identifies secondary findings in a cohort of parent study participants.

PMID 2216472 1990 Effects of stimulus distance on measurements of dark convergence.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 22116472 2011 Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.

PMID 30609409 2019 Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

PMID 12409266 2002 Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

PMID 19238580 2009 Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

PMID 24746540 2014 Primary carnitine deficiency cardiomyopathy.

PMID 14665638 2004 Here we report two new patients with carnitine deficiency caused by mutations affecting tyrosyl residues (Y447C and Y449D) close to a residue (Glu-452) previously shown to affect sodium stimulation of carnitine transport.

PMID 12408185 2002 Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

PMID 9916797 1999 Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 20074989 2010 Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD.

PMID 12183691 2002 Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein.

PMID 19208393 2009 Clinical and genetic analysis of lipid storage myopathies.

PMID 9700600 1998 Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.

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

PMID 16830263 2006 Pericardial effusion in primary systemic carnitine deficiency.

PMID 24997454 2015 Spectrum of metabolic myopathies.

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

PMID 10679939 2000 These results indicate that primary carnitine deficiency can be caused by mutations encoding for carnitine transporters with residual activity, and that the E452K affects a domain not involved in carnitine recognition.

PMID 10559218 1999 Novel organic cation transporter (OCTN2) is an organic cation/carnitine transporter, and two missense mutations, L352R and P478L, in OCTN2 have been identified as the cause for primary carnitine deficiency.

PMID 26190315 2016 Carnitine deficiency induces a short QT syndrome.

PMID 14605509 2003 Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.

rs2073643 in SLC22A5 gene and fibrinogen activity PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).