UniProt AC | UniProt Status | Protein Name | Organism | PMID | Article Title | Category | Annotation | Contributor | ORCID | Submission Date | |
Q9NPP4 | Reviewed | NLR family CARD domain-containing protein 4 | Homo sapiens (Human). | 35462504 | [Identification of rare variants in exons of NLRC4 gene in patients with type 1 diabetes and their impact on gene function]. | [Function][Pathology & Biotech][PTM / Processing][Sequence] | Protein/gene_name: NLR family CARD domain-containing protein 4; NLRC4. Function: Several NLRC4 rare variants may have an impact on gene function and secretion of IL-1B. Disease: Type 1 diabetes. Additional Annotation: NLRC4 gene rare variants c.208C>T, c.1564T>C and c.1219G>C may not change the protein expression, degradation and localization, but c.208C>T and c.1219G>C may inhibit the secretion of IL-1B. | Andrew Fennimore | 0000-0002-5902-1215 | 2022-5-7 |