GFI1 wt Allele

Preferred Label : GFI1 wt Allele;

NCIt synonyms : GFI-1; Growth Factor-Independent 1 Gene; SCN2; GFI1A; ZNF163; Growth Factor Independence-1 Gene; Growth Factor Independent 1 Transcription Repressor Gene; Growth Factor Independent 1 Gene; Growth Factor Independent 1 Transcriptional Repressor wt Allele;

NCIt definition : Human GFI1 wild-type allele is located in the vicinity of 1p22.1 and is approximately 14 kb in length. This allele, which encodes zinc finger protein Gfi-1, plays a role in transcriptional repression during multilineage blood cell development. Mutation of the gene is associated with autosomal recessive severe congenital neutropenia 2 (SCN2) and adult nonimmune chronic idiopathic neutropenia.;

NCI Metathesaurus CUI : CL1642367;

GenBank Accession Number : U67369;

Détails

Origin ID

C176511;

UMLS CUI

C5444298;

Automatic exact mappings (from CISMeF team)
- GF I-1 [MeSH Supplementary Concept]
- Growth factor-independent 1 [OMIM gene]
- Neutropenia, severe congenital, 2, autosomal dominant [OMIM Phenotype]
- growth factor independent 1 transcriptional repressor [ORDO Gene]
- severe congenital neutropenia 2 [DO Concept]
OMIM relation
- Growth factor-independent 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p22.1 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients