TRIP12

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 8 with TRIP12 associated autism and facial dysmorphology (read full description).

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: TRIP12

NCBI Gene: 9320

OMIM: 604506

UniProtKB/Swiss-Prot: Q14669

Clinical Significance

A change in the TRIP12 gene was identified in a UDN participant.

Gene TRIP12

Inheritance Pattern Autosomal dominant

Position (hg19) chr2:g.230695548del

Transcript NM_001284214.1

DNA Change c.1279delT

Protein Change p.Ser427LeufsTer8

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