PRF1 wt Allele

Preferred Label : PRF1 wt Allele;

NCIt synonyms : MGC65093; PFN1; HPLH2; PFP; RP11-710A11.3; P1; FLH2; Perforin 1 (Preforming Protein) Gene; Perforin 1 (Pore Forming Protein) Gene; Perforin 1 wt Allele;

NCIt definition : Human PRF1 wild-type allele is located in the vicinity of 10q22 and is approximately 5 kb in length. This allele, which encodes perforin-1 protein, plays a role in lymphocyte-mediated cytolysis. Mutation of the gene is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.;

GenBank Accession Number : BC047695;

Details

Origin ID

C97740;

UMLS CUI

C3273601;

Automatic exact mappings (from CISMeF team)
- 1,5-dihydro-3-(3-sulfopropyl)lumiflavin [MeSH Supplementary Concept]
- P1 Ag [LOINC component]
- Perforin 1 [OMIM gene]
- Profilin 1 [OMIM gene]
- familial hemophagocytic lymphohistiocytosis 2 [DO Concept]
- perforin 1 [ORDO Gene]
- primary prevention [Q-code]
- profilin 1 [ORDO Gene]
OMIM relation
- Perforin 1 [OMIM gene]
See also inter- (CISMeF)
- Hemophagocytic lymphohistiocytosis, familial, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q22 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Familial Hemophagocytic Lymphohistiocytosis Type 2 [NCIt concept]
gene_is_element_in_pathway
- Allograft Rejection Pathway [NCIt concept]
- Autoimmune Thyroid Disease Pathway [NCIt concept]
- CTL-mediated Immune Response Pathway [NCIt concept]
- Caspase Cascade Pathway [NCIt concept]
- Caspase Cascade in Apoptosis [NCIt concept]
- D4-GDI Signaling Pathway [NCIt concept]
- Downstream Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
- Graft-Versus-Host Disease Pathway [NCIt concept]
- Granzyme A Mediated Apoptosis Pathway [NCIt concept]
- IL12/STAT4 Signaling Pathway [NCIt concept]
- IL2/STAT5 Signaling Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
- Type I Diabetes Mellitus Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
gene_plays_role_in_process
- Antitumor Response [NCIt concept]
- Antiviral Response [NCIt concept]
- Apoptosis [NCIt concept]
- Cell-Mediated Cytotoxicity [NCIt concept]
- Immune System Process [NCIt concept]
- Positive Regulation of Cytolytic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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