JAG1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the JAG1 gene was identified in a female, age 36 with rapid, unexplained bilateral vocal cord spasms and muscle weakness (read full description).

Date of Report

Aug 19, 2021

Full Name

jagged canonical Notch ligand 1

Location

Chromosome 20 (20p12.2)

Function

The JAG1 gene encodes for a protein that is involved in the activation of Notch signaling and the differentiation of cardiomyocytes (Li et al., 2006).

Database Links

GeneCards: JAG1

MedlinePlus Genetics: JAG1

NCBI Gene: 182

OMIM: 601920

UniProtKB/Swiss-Prot: P78504

Clinical Significance

A change in this gene was identified in a UDN participant.

Gene JAG1

Inheritance Pattern Unknown

Position (hg19) chr20:g.10626003C>A

Transcript NM_000214.2

DNA Change c.2113+1G>T

Protein Change N/A

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!