LP36723-2
CIAS1 gene
Active
Description
The CIAS1 gene (NLR family, pyrin domain containing 3) gene is located on chromosome 1q44. This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008] [NCBI Gene ID:114548] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- CIAS1 gene
- Part Display Name
- CIAS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-07
- Construct for LOINC Short Name
- CIAS1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CIAS1 基因 Synonyms: AGTAVPRL; |
| et-EE | Estonian (Estonia) | CIAS1 geen |
| es-ES | Spanish (Spain) | Gen CIAS1 |
| it-IT | Italian (Italy) | CIAS1, gene Synonyms: Gene CIAS1 |
| tr-TR | Turkish (Turkey) | CIAS1 geni |
| ru-RU | Russian (Russian Federation) | CIAS1 ген |
| nl-NL | Dutch (Netherlands) | CIAS1-gen Synonyms: CIAS1 gen |
| fr-FR | French (France) | CIAS1 gène |
| pl-PL | Polish (Poland) | CIAS1 gen Synonyms: Gen CIAS1 |
| el-GR | Greek (Greece) | Γονίδιο CIAS1 Synonyms: Γονίδιο CIAS1 |
LOINC Copyright
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