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NEDMCMS

Chr 11

thioredoxin related transmembrane protein 2

Also known as: CGI-31, NEDMCMS, PDIA12, PIG26, TXNDC14

NCBI Gene: 51075

This protein is a disulfide isomerase family member that catalyzes protein folding and thiol-disulfide interchange reactions in the endoplasmic reticulum and is enriched on mitochondria-associated membranes. Biallelic mutations cause neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity with autosomal recessive inheritance. This condition primarily affects the central nervous system with structural brain abnormalities and motor dysfunction.

ResearchSummary from RefSeq, OMIM

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 encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)