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SNP information rs72552726

RS72552726

Normal allele: GG

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene manifested by peripheral neuropathy.

Polymorphism rs72552726 is related to topics like this:

CPT2 disease

A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...

Research and publications:

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

  16652335   Pharmacological rescue of carnitine transport in primary carnitine deficiency.

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

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

  21922592   Genotype-phenotype correlation in primary carnitine deficiency.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

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

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

Nuclear hormone receptors

The activated ligand-regulated transcription factors collectively known as nuclear receptors...

21 hydroxylase

The CYP21A2 gene encodes the human protein, Steroid 21-hydroxylase. This enzyme hydroxylates...

Serotonin transporter sert

In humans, the SLC6A4 gene encodes a protein referred to as both the sodium-dependent serotonin...

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