ERP29 endoplasmic reticulum protein 29
Gene ID: 10961, updated on 7-Apr-2024Gene type: protein coding
Also known as: ERp28; ERp31; PDIA9; PDI-DB; C12orf8; HEL-S-107
- See all available tests in GTR for this gene
- Go to complete Gene record for ERP29
- Go to Variation Viewer for ERP29 variants
Summary
This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Genomic context
- Location:
- 12q24.13
- Sequence:
- Chromosome: 12; NC_000012.12 (112013426..112023449)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ERP29 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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