PDIA6 Chromosome 2
Protein disulfide isomerase family A member 6
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2465035373 | Health Risk | Likely pathogenic | See cases, See cases |