POP1 Antibody

1. Biallelic POP1 mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser]:[Glu870fs*5]. Markedly reduced abundance of RMRP and elevated levels of pre5.8s rRNA was observed. In proband 2, a homozygous novel POP1 mutation was identified PMID: 28067412
2. we reported the third case with POP1-related AAD. This phenotype may appropriately be termed AAD type 2. PMID: 27380734
3. by inhibiting inflammasome assembly, provides a regulatory feedback loop that shuts down excessive inflammatory responses; Cryopyrin-Associated Periodic Syndrome patients exhibit reduced expression PMID: 26275995
4. S-palmitoylation alters conformation or secondary structure of Trx1, as well as decreases the ability of Trx1 to transfer electrons from thioredoxin reductase to S-nitrosylated protein-tyrosine phosphatase 1B and S-nitroso-glutathione PMID: 25839653
5. Mitochondrial ribonuclease P structure provides insight into the evolution of catalytic strategies for precursor-trna 5' processing. PMID: 22991464
6. POP1 gene expression is increased in classic variant of papillary thyroid carcinoma. PMID: 21509594
7. A transient association of protein subunits may be inversely correlated to its involvement in pre-rRNA processing. PMID: 16723659

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HGNC: 30129

OMIM: 602486

KEGG: hsa:10940

STRING: 9606.ENSP00000339529

UniGene: Hs.252828