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Article

Identification of the most damaging nsSNPs in the human CFL1 gene and their functional and structural impacts on cofilin-1 protein.

Gene - 20 Apr 2022

Halder Sajal Kumar, Rafi Md Oliullah, Shahriar Esha Binte, Albogami Sarah, El-Shehawi Ahmed M, Daullah S M Muktasid Ud, Himel Mahbubul Kabir, Emran Talha Bin

Abstract excerpt

The cofilin-1 protein, encoded by CFL1, is an actin-binding protein that regulates F-actin depolymerization and nucleation activity through phosphorylation and dephosphorylation. CFL1 has been implicated in the development of neurodegenerative diseases (Alzheimer's disease and Huntington's disease), neuronal migration disorders (lissencephaly, epilepsy, and schizophrenia), and neural tube closure defects....

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PMID: 35092861
DOI: 10.1016/j.gene.2022.146206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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