AEBP1 wt Allele

Preferred Label : AEBP1 wt Allele;

NCIt synonyms : AE Binding Protein 1 wt Allele; ACLP;

NCIt definition : Human AEBP1 wild-type allele is located in the vicinity of 7p13 and is approximately 10 kb in length. This allele, which encodes adipocyte enhancer-binding protein 1, may be involved in collagen fibrillogenesis, adipocyte proliferation and enhanced macrophage-dependent inflammation. Nonsense mutations affecting the gene are associated with Ehlers-Danlos syndrome, classic-like 2.;

NCI Metathesaurus CUI : CL1648331;

GenBank Accession Number : D86479;

Details

Origin ID

C178708;

UMLS CUI

C5551294;

Automatic exact mappings (from CISMeF team)
- AE binding protein 1 [ORDO Gene]
- Ae-binding protein 1 [OMIM gene]
OMIM relation
- Ae-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7p13 [NCIt concept]
gene_plays_role_in_process
- Histogenic Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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