UNC93B1 unc-93 homolog B1, TLR signaling regulator
Gene ID: 81622, updated on 2-Nov-2024Gene type: protein coding
Also known as: IIAE1; UNC93; UNC93B; Unc-93B1
- See all available tests in GTR for this gene
- Go to complete Gene record for UNC93B1
- Go to Variation Viewer for UNC93B1 variants
Summary
This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Herpes simplex encephalitis, susceptibility to, 1 | not available |
Genomic context
- Location:
- 11q13.2
- Sequence:
- Chromosome: 11; NC_000011.10 (67991100..68004097, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UNC93B1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UNC93B1 database
- UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.