PDE2A

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 this gene was identified in a female, age 3 with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia) (read full description).

Date of Report

Jun 24, 2019

Full Name

phosphodiesterase 2A

Location
Chromosome 11 (11q13.4)


Function

The PDE2A gene plays an important role in the regulation of ATP production inside the mitochondria (Monterisi et al., 2017).

Database Links

GeneCards: GC11M072576

NCBI Gene: 5138

OMIM: 602658

UniProtKB/Swiss-Prot: O00408

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene PDE2A
Inheritance Pattern unknown
Position chr11:72296600
Transcript NM_002599.4
DNA Change c.1220T>G
Protein Change p.Leu407Arg
Contact Us

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

Top