TMX2
Domain
The thioredoxin domain lacks the 2 redox-active cysteines, suggesting that it lacks thioredoxin activity.
The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Function
Endoplasmic reticulum and mitochondria-associated protein that probably functions as a regulator of cellular redox state and thereby regulates protein post-translational modification, protein folding and mitochondrial activity. Indirectly regulates neuronal proliferation, migration, and organization in the developing brain.
Involvement in disease
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
NEDMCMS
An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type I membrane protein
- Mitochondrion membrane
- Single-pass type I membrane protein
- Localizes to endoplasmic reticulum mitochondria-associated membrane (MAMs) that connect the endoplasmic reticulum and the mitochondria.
Alternative names
TXNDC14, CGI-31, My009, PIG26, PSEC0045, UNQ237/PRO270, TMX2, Thioredoxin-related transmembrane protein 2, Cell proliferation-inducing gene 26 protein, Thioredoxin domain-containing protein 14