rs121908892

This is a variant in the SLC22A5 gene that changes a methionine to an isoleucine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Renal carnitine transport defect (CDSP)

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Research that mentions this SNP (1)

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Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in theSLC22A5 gene
MethodsN=21Steven F. Dobrowolski et al.(2005)· Human Mutation

This methods paper validates dye-binding/high-resolution thermal denaturation using LCGreen I dye for screening mutations in the SLC22A5 gene (encoding the OCTN2 carnitine transporter). The technique correctly identified all compound heterozygous patients and ~30% of homozygous patients; 70% of homozygotes required mixing with normal DNA to generate detectable heteroduplexes. Eight novel mutations in SLC22A5 were identified in 6 new families with primary carnitine deficiency, including three missense mutations (c.3G>T/p.M1I, c.695C>T/p.T232M, c.1403C>G/p.T468R) confirmed to impair carnitine transport in CHO cell expression studies.

Traits studied:Primary carnitine deficiency
PubMedDOIMetascience Observatory

About SLC22A5

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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