COL4A5 wt Allele

Preferred Label : COL4A5 wt Allele;

NCIt synonyms : ASLN; ATS; Collagen, Type IV, Alpha 5 (Alport Syndrome) wt Allele; MGC42377; CA54;

NCIt definition : Human COL4A5 wild-type allele is located in the vicinity of Xq22 and is approximately 258 kb in length. This allele, which encodes collagen alpha-5(IV) chain protein, plays a role in the modulation of the conformation of the extracellular matrix. Mutation or deletion of the gene is associated with Alport syndrome.;

NCIt note : The COL4A5 gene and the COL4A6 gene are arranged head to head and share a transcriptional promoter region. (Entrez Gene);

GenBank Accession Number : M90464;

Details

Origin ID

C71434;

UMLS CUI

C2347281;

False automatic mappings
- Arterial tortuosity syndrome [ORDO Disease]
- Atypical Timothy syndrome [ORDO Disease]
OMIM relation
- Collagen, type iv, alpha-5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Alport Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq22 [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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