TRIP12

On this page, you will find information about a genetic change that was identified in a UDN participant.

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

Feb 15, 2018

Full Name

thyroid hormone receptor interactor 12

Location
Chromosome 2 (2q36.3)


Function

The TRIP12 gene encodes a protein called an E3 ubiquitin protein ligase that is involved in labeling specific cellular proteins for degradation (Bramswig et al., 2017).

Database Links

GeneCards: GC02M229763

Genetics Home Reference: TRIP12

NCBI Gene: 9320

OMIM: 604506

UniProtKB/Swiss-Prot: Q14669

Clinical Significance

A change in the TRIP12 gene was identified in a UDN participantThe participant was found to carry the following genetic change:

Gene TRIP12
Inheritance Pattern Autosomal dominant
Position Chr2:230695547
Transcript NM_001284214.1
DNA Change c.1279delT
Protein Change p.Ser427LeufsTer8
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