SUPT16H wt Allele

Preferred Label : SUPT16H wt Allele;

NCIt synonyms : SPT16, S. cerevisiae, Homolog of Gene; Suppressor of Ty 16 Homolog (S. cerevisiae) Gene; SPT16/CDC68; Suppressor of Ty (S.cerevisiae) 16 Homolog Gene; FACT, 140-kD Subunit Gene; Suppressor of Ty 16 Homolog Gene; SPT16; Chromatin-Specific Transcription Elongation Factor, 140-kD Gene; FACT140; SPT16 Homolog, Facilitates Chromatin Remodeling Subunit wt Allele; CDC68; FLJ14010; FACTP140; NEDDFAC; Suppressor of Ty 16, S. cerevisiae, Homolog of Gene; FLJ10857;

NCIt definition : Human SUPT16H wild-type allele is located in the vicinity of 14q11.2 and is approximately 33 kb in length. This allele, which encodes FACT complex subunit SPT16 protein, is involved in chromatin stability, mRNA elongation, DNA replication and DNA repair. Mutation of the gene is associated with neurodevelopmental disorder with dysmorphic facies and thin corpus callosum.;

NCI Metathesaurus CUI : CL1664736;

GenBank Accession Number : M86737;

Details

Origin ID

C181641;

UMLS CUI

C5551162;

OMIM relation
- Structure-specific recognition 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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q11.2 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcription Elongation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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