MEN1 wt Allele

Preferred Label : MEN1 wt Allele;

NCIt synonyms : MEAI; MEN I; MEN1; MEA I; SCG2; Menin 1 wt Allele; Multiple Endocrine Neoplasia 1 Gene; Multiple Endocrine Neoplasia I Gene;

NCIt definition : Human MEN wild-type allele is located in the vicinity of 11q13 and is approximately 8 kb in length. This allele, which encodes menin protein, plays a role in repression of transcription by RNA polymerase II. Mutations in this gene are associated with a variety of tumor types.;

NCIt note : The MEN1 gene product is mutated in multiple endocrine neoplasia 1, isolated hyperparathyroid tumor, gastrinoma, insulinoma, and bronchial carcinoid tumors. This gene product also interacts with the transcription factor JUND (GeneCards).;

GenBank Accession Number : U93236;

Details

Origin ID

C53065;

UMLS CUI

C1704889;

OMIM relation
- Multiple endocrine neoplasia, type I [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_has_abnormality
- MEN1 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 11q13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Gastric Neuroendocrine Tumor [NCIt concept]
- Multiple Endocrine Neoplasia Type 1 [NCIt concept]
- Pancreatic Neuroendocrine Tumor [NCIt concept]
- Parathyroid Gland Adenoma [NCIt concept]
- Small Intestinal Gastrin-Producing Neuroendocrine Tumor [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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