Aliases for TMX3 Gene
External Ids for TMX3 Gene
Previous HGNC Symbols for TMX3 Gene
Previous GeneCards Identifiers for TMX3 Gene
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
GeneCards Summary for TMX3 Gene
TMX3 (Thioredoxin Related Transmembrane Protein 3) is a Protein Coding gene. Diseases associated with TMX3 include Trichinosis and Microphthalmia. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is P4HB.
UniProtKB/Swiss-Prot for TMX3 Gene
Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.