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: 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 (hg19) chr12:g.20522979A>G

Transcript NM_000921.4

DNA Change c.761A>G

Protein Change p.Tyr254Cys

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