" /> JPH2 wt Allele - CISMeF





Preferred Label : JPH2 wt Allele;

NCIt synonyms : JP2; CMD2E; Junctophilin 2 wt Allele; CMH17; JP-2;

NCIt definition : Human JPH2 wild-type allele is located in the vicinity of 20q13.12 and is approximately 81 kb in length. This allele, which encodes junctophilin-2 protein, plays a role in the coupling of excitation and contraction in cardiomyocytes and the response to cardiac stress. Mutation in the gene is associated in both dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17.;

NCI Metathesaurus CUI : CL1920720;

GenBank Accession Number : AL034419;

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.