Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human HMBS protein

Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human HMBS protein

Background: Acute intermittent porphyria (AIP; OMIM#176000) is a genetic disorder that is caused by mutations in the hydroxymethylbilane synthetase (HMBS) gene. This gene encodes the third enzyme in the heme biosynthesis pathway. Human HMBS (hHMBS) contains a 29-residue insert (residues 296-324) at...

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Bibliographic Details
Main Authors: Lei Liang, Haixia Meng, Haotian Wu, Jianrong Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Molecular Biosciences
Subjects:
AIP
HMBS
splicing variant
molecular dynamics
molecular docking
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1230798/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2023.1230798/full

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