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.

Date of Report

Jun 12, 2018

Full Name

Protein phosphatase 2 catalytic subunit beta

Location
Chromosome 8 (8p12)


Function

The PP2CB gene codes for a protein phosphatase involved in regulatory cell growth control (Hoffmeister et al., 2014).

Database Links

GeneCards: GC08M030762

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 Chr8: 30655231
Transcript NM_001009552.1
DNA Change c.352delC
Protein Change p.His118ThrfrsX41
Contact Us

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