Gene: MIR3936HG

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs11568520 in MIR3936HG;SLC22A5 gene and Renal carnitine transport defect PMID 16931768 2006 Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

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

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

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

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

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

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

PMID 26828774 2016 Carnitine transport and fatty acid oxidation.

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

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

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 10612840 2000 Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary 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 23963628 2014 Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.

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

PMID 15714519 2005 Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

PMID 23430858 2012 Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

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

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

PMID 21126579 2011 Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.

PMID 23430798 2013 Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary 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 16652335 2006 Pharmacological rescue of carnitine transport in primary carnitine deficiency.

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

PMID 24516753 2014 Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

PMID 26589311 2016 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

rs2631367 in MIR3936HG;SLC22A5 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.