Impact of Missense Variants on the Structure and Function of Polycystic Ovary Syndrome-Associated HSD17B1 Gene.

doi:10.1007/s10528-025-11106-2

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Article

Impact of Missense Variants on the Structure and Function of Polycystic Ovary Syndrome-Associated HSD17B1 Gene.

Biochemical genetics - 1 Apr 2026

Bhandary Prajna, Ghate Sudeep D, Patil Prakash, Shetty Praveenkumar, Shetty Prasanna Kumar, Nalilu Suchetha Kumari

Abstract excerpt

HSD17B1 regulates estrogen availability in the ovary, and its dysregulation is linked to cyst formation in polycystic ovary syndrome. This study aimed to understand the role of missense variants in HSD17B1 dysfunction. Bioinformatic tools (sift, polyphen2, panther, snps & go, phd-snp, pmut, snap and revel score) were used to identify the deleterious missense variants of HSD17B1 gene. InterPro and Pfam tools were...

Topics

Humans
Polycystic Ovary Syndrome
Female
Mutation, Missense
Estradiol Dehydrogenases
Polymorphism, Single Nucleotide
Molecular Docking Simulation

Source

Open in PubMed

Identifiers

PMID: 40257693
DOI: 10.1007/s10528-025-11106-2

Genes

HSD17B1

Variants

rs138503851

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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