UniProt Summary: May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037). {ECO:0000250|UniProtKB:Q4VAE3, ECO:0000269|PubMed:28295037}.
Pfam DomainsGO Terms
Pfam Domains
DUF2453
GO Terms
intercalated disc
regulation of cardiac conduction
cardiac ventricle development
cardiac chamber development
regulation of heart contraction
regulation of blood circulation
mitochondrial inner membrane
heart development
regulation of system process
circulatory system development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)