Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification

Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification

Abstract SLC20A2, encoding human type III sodium-dependent phosphate transporter 2 (hPiT2), is the gene most frequently associated with primary familial brain calcification (PFBC). The mechanism by which a SLC20A2 mutation causes phosphate transporter dysfunction may depend on the functional region...

Full description

Saved in:
Bibliographic Details
Main Authors: Shih-Chun Lan, Yu-Sung Huang, Jia-Yin Tsai, Min-Yu Lan, Yuh-Ju Sun, Yung-Yee Chang
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
Subjects:
Molecular dynamics simulation
Primary Familial brain calcification
Sodium-dependent phosphate transporter
SLC20 A2
P631S variant
Online Access:https://doi.org/10.1038/s41598-025-03953-1
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1038/s41598-025-03953-1

Similar Items