DUX4L2 wt Allele

Preferred Label : DUX4L2 wt Allele;

NCIt synonyms : DUX4; Double Homeobox 4 Like 2 wt Allele;

NCIt definition : Human DUX4L2 gene is located in the vicinity of 4q35.2 and is approximately 1 kb in length. This allele, which encodes double homeobox protein 4-like protein 2, may play a role in transcription. This gene is within a D4Z4 repeat array; contraction of this macrosatellite repeat is associated with facioscapulohumeral muscular dystrophy (FSHD).;

NCIt note : HGNC and EntrezGene catagorize this gene as a pseudogene; however, a protein product does exist in UniProt.;

NCI Metathesaurus CUI : CL545794;

GenBank Accession Number : NM_001127386;

Details

Origin ID

C147932;

UMLS CUI

C4553518;

Automatic exact mappings (from CISMeF team)
- Double homeobox protein 4 [OMIM gene]
- double homeobox 4 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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