Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.

ABSTRACT:

Aims

GJB4 encodes a transmembrane connexin protein (Cx30.3) that is a component of gap junctions. This study investigated whether GJB4 plays an important role in human heart disease and function.

Methods and results

We examined a patient and her older brother who both presented with complicated severe hypertrophic cardiomyopathy (HCM) and whose parents are healthy married cousins. The gene exome analysis showed 340 single nucleotide polymorphisms (SNPs) that caused amino acid changes for which the patient was homozygous and both parents were heterozygous. After excluding all known common (>10%) SNP gene mutations, the gene for GJB4 was the only identified gene that is possibly associated with cardiac muscle. The resultant E204A substitution exists in the 4th transmembrane do

SUBMITTER: Okamoto R 

PROVIDER: S-EPMC7553298 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature