COPZ1 COPI coat complex subunit zeta 1
Gene ID: 22818, updated on 28-Oct-2024Gene type: protein coding
Also known as: COPZ; CGI-120; HSPC181; zeta-COP; zeta1-COP
- See all available tests in GTR for this gene
- Go to complete Gene record for COPZ1
- Go to Variation Viewer for COPZ1 variants
Summary
This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. GeneReviews: Not available | |
| GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.13
- Sequence:
- Chromosome: 12; NC_000012.12 (54325131..54351846)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COPZ1 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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