PPP2CB

On this page, you will find information about genetic changes that were 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 12, with developmental regression, absent speech, seizures, and distinct facial features (read full description).

Date of Report

Jun 12, 2018

Full Name

Protein phosphatase 2 catalytic subunit beta

Location

Chromosome 8 (8p12)

Function

The PPP2CB gene codes for a protein phosphatase involved in regulatory cell growth control (Hoffmeister et al., 2014).

Database Links

GeneCards: PPP2CB

NCBI Gene: 5516

OMIM: 176916

UniProtKB/Swiss-Prot: P62714

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 PPP2CB

Inheritance Pattern Autosomal recessive

Position (hg19) chr8:g.30655231del

Transcript NM_001009552.1

DNA Change c.352delC

Protein Change p.His118ThrfsTer41

Contact Us

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