PDIA6 Chromosome 2

Protein disulfide isomerase family A member 6
1 variant 1 Health Risk

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What This Gene Does
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, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Protein disulfide isomerases|Thioredoxin domain containing "
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000143870
Associated Conditions (1)
See cases
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2465035373 Health Risk Likely pathogenic See cases, See cases
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