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Haploinsufficiency for TMX3 results in a small eye phenotype and represents a novel genetic cause of microphthalmia and coloboma.
TMX3 is a thioredoxin (show TXN Proteins)-related transmembrane protein of the endoplasmic reticulum
analysis of TMX3 interdomain stabilization of the N-terminal redox-active domain
Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase (By similarity).
protein disulfide-isomerase TMX3
, thioredoxin domain containing 10
, thioredoxin domain-containing protein 10
, thioredoxin-related transmembrane protein 3
, Protein disulfide-isomerase TXNDC10
, protein disulfide isomerase family A, member 13