" /> COL5A2 wt Allele - CISMeF





Preferred Label : COL5A2 wt Allele;

NCIt synonyms : EDSC; EDSCL2; Collagen, Type V, Alpha 2 Gene; Collagen, Type V, Alpha-2 Gene; Collagen, Fetal Membrane, A Polypeptide Gene; Collagen Type V Alpha 2 Chain wt Allele;

NCIt definition : Human COL5A2 wild-type allele is located in the vicinity of 2q32.2 and is approximately 193 kb in length. This allele, which encodes collagen alpha-2(V) chain protein, plays a role in the formation of fibrillar collagen and the extracellular matrix. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 2.;

NCI Metathesaurus CUI : CL1643230;

GenBank Accession Number : Y14690;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.