NSD1 wt Allele

Preferred Label : NSD1 wt Allele;

NCIt synonyms : SOTOS; FLJ10684; FLJ44628; ARA267; KMT3B; Nuclear Receptor Binding SET Domain Protein 1 wt Allele; DKFZp666C163; FLJ22263; STO; Nuclear Receptor-Binding Su-Var, Enhancer of Zeste, and Trithorax Domain Protein 1 Gene; Sotos Syndrome Gene; SOTOS1;

NCIt definition : Human NSD1 wild-type allele is located within 5q35.2-q35.3 and is approximately 162 kb in length. This allele, which encodes histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific protein, plays a role in the modulation of histone methylation. Mutations and translocations of the gene are involved in several diseases.;

NCIt note : Mutations in the NSD1 gene are associated with both Weaver syndrome and Beckwith-Wiedemann syndrome. Point mutations, microdeletions and a translocation t(5;8)(q35;q24.1) involving the gene are associated with Sotos syndrome. A translocation t(5;11)(q35;p15.5) involving both the NSD1 gene and the NUP98 gene results in the production of a fusion protein and is associated with childhood acute myeloid leukemia. (OMIM);

GenBank Accession Number : AK026066;

Details

Origin ID

C75877;

UMLS CUI

C2698423;

False automatic mappings
- sotos syndrome [MeSH Descriptor]
OMIM relation
- Nuclear receptor-binding set domain protein 1 [OMIM gene]
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_associated_with_disease
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Sotos Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Gene Expression [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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