Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.E169G
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STAR

NM_000349.3:p.E169G

Associated Papers

The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.

Lim JH et al.

Development & Reproduction, 2025

STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Phadte A et al.

Clinical Endocrinology, 2024

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

Flück CE et al.

Plos One, 2011

Steroidogenic acute regulatory protein in white sturgeon (Acipenser transmontanus): cDNA cloning, sites of expression and transcript abundance in corticosteroidogenic tissue after an acute stressor.

Kusakabe M et al.

General and Comparative Endocrinology, 2009

The mechanism of specific binding of free cholesterol by the steroidogenic acute regulatory protein: evidence for a role of the C-terminal alpha-helix in the gating of the binding site.

Roostaee A et al.

Bioscience Reports, 2009

Validation of the mechanism of cholesterol binding by StAR using short molecular dynamics simulations.

Barbar E et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2009

Phenotypic features of 46, XX females with StAR protein mutations.

Bhangoo A et al.

Pediatric Endocrinology Reviews : Per, 2007

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Baker BY et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

Bhangoo A et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.

Stocco DM

Molecular and Cellular Endocrinology, 2002

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

Bose HS et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Structure and lipid transport mechanism of a StAR-related domain.

Tsujishita Y et al.

Nature Structural Biology, 2000

Incorrect folding of steroidogenic acute regulatory protein (StAR) in congenital lipoid adrenal hyperplasia.

Bose HS et al.

Biochemistry, 1998

MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis.

Watari H et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS et al.

The New England Journal of Medicine, 1996

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