PDE3A

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.

Changes in the PDE3A gene were identified in a male, age 15 with gastrointestinal dysmotility and chronic constipation (read full description).

Date of Report

Jan 03, 2019

Full Name

phosphodiesterase 3A

Location
Chromosome 12 (12p12.2)


Function

The PDE3A gene codes for an enzyme that plays an important role in cellular nucleotide signals (Degerman et al. 1997).

Database Links

GeneCards: GC12P020294

Genetics Home Reference: PDE3A

NCBI Gene: 5139 

OMIM: 123805

UniProtKB/Swiss-Prot: Q14432

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene PDE3A
Inheritance Pattern Autosomal recessive
Position Chr12: 20522979
Transcript NM_000921
DNA Change c.761A>G
Protein Change p.Y254C
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