DGCR8 wt Allele

Preferred Label : DGCR8 wt Allele;

NCIt synonyms : C22orf12; DiGeorge Syndrome Critical Region Gene 8; Chromosome 22 Open Reading Frame 12 Gene; Gy1; DGCRK6; DGCR8 Microprocessor Complex Subunit wt Allele; Pasha Gene;

NCIt definition : Human DGCR8 wild-type allele is located in the vicinity of 22q11.2 and is approximately 32 kb in length. This allele, which encodes microprocessor complex subunit DGCR8 protein, is involved in the modulation of microRNA biosynthesis. Deletion of this chromosomal region is associated with DiGeorge syndrome and loss of the gene may be associated with schizophrenia.;

GenBank Accession Number : AB050770; AF165527;

Details

Origin ID

C92664;

UMLS CUI

C2985242;

OMIM relation
- Dgcr8 microprocessor complex subunit [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
- 22q11.2 Deletion Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.2 [NCIt concept]
gene_is_element_in_pathway
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- MicroRNA Synthesis [NCIt concept]
- RNA Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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