MPEG1 macrophage expressed 1
Gene ID: 219972, updated on 27-Nov-2024Gene type: protein coding
Also known as: P-2; MPG1; MPS1; IMD77; Mpg-1
- See all available tests in GTR for this gene
- Go to complete Gene record for MPEG1
- Go to Variation Viewer for MPEG1 variants
Summary
Enables wide pore channel activity. Involved in defense response to Gram-negative bacterium and defense response to Gram-positive bacterium. Located in cytoplasmic vesicle. Is active in phagolysosome membrane. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Immunodeficiency 77 | not available |
Genomic context
- Location:
- 11q12.1
- Sequence:
- Chromosome: 11; NC_000011.10 (59208510..59212927, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MPEG1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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