PPP1R3F

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 male, age 39 with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit) (read full description).

Date of Report

Mar 18, 2019

Full Name

protein phosphatase 1 regulatory subunit 3F

Location

Chromosome X (Xp11.23)

Function

The PPP1R3F gene codes for a protein that contributes to the formation of the PP1 haloenzyme (NCBI).

Database Links

GeneCards: PPP1R3F

NCBI Gene: 89801

UniProtKB/Swiss-Prot: Q6ZSY5

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 PPP1R3F

Inheritance Pattern X-linked

Position (hg19) chrX:g.49143355A>G

Transcript NM_033215.4

DNA Change c.2203A>G

Protein Change p.Ser735Gly

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