POMP Antibody

1. POMP-related autoinflammation and immune dysregulation disease (PRAID) discovered in two unrelated individuals with a unique constellation of early-onset combined immunodeficiency, inflammatory neutrophilic dermatosis, and autoimmunity, is reported. PMID: 29805043
2. POMP is overexpressed and participates in the increase of proteasome assembly and activity in psoriatic skin. PMID: 28728908
3. MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child PMID: 26615982
4. studies validate a role for the NRF2/POMP axis in bortezomib resistance and identify NRF2 and POMP as potentially attractive targets for chemosensitization to this proteasome inhibitor PMID: 26483548
5. microRNA-101 (miR-101) targets the proteasome maturation protein POMP, leading to impaired proteasome assembly and activity, and resulting in accumulation of p53 and cyclin-dependent kinase inhibitors, cell cycle arrest, and apoptosis. PMID: 26145175
6. Single-nucleotide polymorphisms in POMP gene is associated with breast cancer risk after menopausal hormone replacement therapy. PMID: 24080446
7. KLICK is caused by reduced levels of POMP, leading to proteasome insufficiency in differentiating keratinocytes PMID: 22235297
8. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. PMID: 20226437
9. POMP/proteassemblin/hUmp1 may be tetramerised and is localized to the cytoplasm and the nucleus PMID: 16624403
10. Data show that POMP facilitates the main steps in 20S core complex formation at the ER to coordinate the assembly process and to provide cells with freshly formed proteasomes at their site of function. PMID: 17948026

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HGNC: 20330

OMIM: 601952

KEGG: hsa:51371

STRING: 9606.ENSP00000370222

UniGene: Hs.268742