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solute carrier family 25 (carnitine/acylcarnitine translocase), member 20

This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by R...

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Data Correlations | 1,525 studies

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Individual Studies
  • OMIM - Congenital disorder

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

  • Broad Connectivity Map (CMAP 2.0) compound database

    score: 100100 | Homo sapiens Homo sapiens | RNA Expression   RNA Expression

    A reference collection of genome-wide transcriptional expression data from cultured human cells treated with bioactive small molecules that enable the discovery of functional connections between drugs, genes and diseases through the transitory feature of common gene-expression changes.

    Authors: Lamb J

    Organization: Broad Institute Seven Cambridge Center C…

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Thought leaders and organizations working on research involving SLC25A20.

  • Olga Rejtarová
  • Vito Iacobazzi
  • Petr Hejna
  • Barry S C Leadbeater
  • Ferdinando Palmieri
  • Intergroupe Francophone de Cancerologie Thoracique
  • University of California
  • Charles University Prague
  • University of Birmingham
  • Rice University
  • Osaka University

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