ERP27

Chr 12

endoplasmic reticulum protein 27

Also known as: C12orf46, PDIA8

NCBI Gene: 121506 ENSG00000139055 UniProt: Q96DN0

The protein binds unfolded proteins in the endoplasmic reticulum and may recruit protein disulfide isomerase PDIA3 to assist with protein folding. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy, characterized by severe seizures, developmental delay, and progressive microcephaly. This gene shows moderate constraint against loss-of-function variants in the population.

ResearchSummary from RefSeq, UniProt

This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.86

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)