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Article

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

The Journal of endocrinology - 1 Sept 2024

Altinkilic Emre Murat, Augsburger Philipp, Pandey Amit V, Flück Christa E

Abstract excerpt

Biallelic variants of steroidogenic acute regulatory protein (STAR/STARD1) may cause primary adrenal insufficiency and 46,XY disorder of sex development. STAR plays a pivotal role in transporting cholesterol into mitochondria where cholesterol serves as an essential substrate for initiating steroid biosynthesis by its conversion to pregnenolone. Generally, loss-of-function mutations of STAR cause the classic form...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38913505
DOI: 10.1530/JOE-24-0078

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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