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steroidogenic acute regulatory protein

The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq]

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Data Correlations | 949 studies

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Individual Studies
  • Mouse Phenotypes - Autosomal recessive hereditary disorder

    score: 100100 | Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data

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Thought leaders and organizations working on research involving STAR.

  • Anna Frebel
  • Robert D Mathieu
  • G Pagliara
  • Barry F Madore
  • Christopher F McKee
  • Link America, Inc.
  • Memorial Sloan-Kettering Cancer Center
  • University Hospital Inselspital, Berne
  • University of Maryland
  • National Institute of Allergy and Infectious Diseases (NIAID)
  • Harvard-Smithsonian Center for Astrophysics
  • Instituut voor Sterrenkunde
  • Max-Planck-Institut für extraterrestrische Physik
  • Max Planck Institut für Astrophysik
  • University of Manchester

Clinical Trials | 203 trials

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Community

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View All NextBio Users | 8 people
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