Biophysical Properties of Somatic Cancer Mutations in the S4 Transmembrane Segment of the Human Voltage-Gated Proton Channel hH_V1.

ABSTRACT: Somatic mutations are common in cancer, with only a few driving the progression of the disease, while most are silent passengers. Some mutations may hinder or even reverse cancer progression. The voltage-gated proton channel (H_V1) plays a key role in cellular pH homeostasis and shows increased expression in several malignancies. Inhibiting H_V1 in cancer cells reduces invasion, migration, proton extrusion, and pH recovery, impacting tumor progression. Focusing on HVCN1, the gene coding for the human voltage-gated proton channel (hH_V1), 197 mutations were identified from three databases: 134 missense mutations, 51 sense mutations, and 12 introducing stop codons. These mutations cluster in two hotspots: the central region of the N-terminus and the regio

SUBMITTER: Jardin C 

PROVIDER: S-EPMC11853527 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature