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Article

Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Jan 2013

Baquedano María Sonia, Guercio Gabriela, Marino Roxana, Berensztein Esperanza, Costanzo Mariana, Bailez Marcela, Vaiani Elisa, Maceiras Mercedes, Ramirez Pablo, Chaler Eduardo, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

CONTEXT: Steroid acute regulatory (StAR) protein is a mitochondria-targeted protein that is part of the transduceosome complex crucial for transport of cholesterol to mitochondria. Recessive mutations cause classic and nonclassic congenital lipoid adrenal hyperplasia. OBJECTIVE: The aim of this study was to report the clinical, hormonal, genetic, and functional data of a novel heterozygous mutation in the StAR...

Topics

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Adrenal Hyperplasia, Congenital
Chlorocebus aethiops
COS Cells
Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Disorders of Sex Development

Phosphoproteins

Protein Sorting Signals

Steroidogenic Acute Regulatory Protein

Source

Identifiers

PMID: 23175692
DOI: 10.1210/jc.2012-2865

Genes

FDX1
FDXR
TSPO
VDAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.PMID 23175692Read ↗

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.Semantic proximity Read ↗

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[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].Semantic proximity Read ↗

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