TMX3

Chr 18

thioredoxin related transmembrane protein 3

Also known as: PDIA13, TXNDC10

NCBI Gene: 54495 ENSG00000166479 UniProt: Q96JJ7 OMIM: 616102

TMX3 encodes a disulfide isomerase that catalyzes protein folding in the endoplasmic reticulum and regulates endoplasmic reticulum-mitochondria contact sites through redox signaling. Mutations cause microphthalmia with autosomal dominant inheritance. The gene is moderately constrained against loss-of-function variants and shows highest expression in heart and skeletal muscle.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Multiple*

Mechanism· predicted