TRIP11

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.

Changes in the TRIP11 gene were identified in a female, age 3, with a skeletal disorder (read full description).

Date of Report

Feb 15, 2019

Full Name

Thyroid Hormone Receptor Interactor 11

Location

Chromosome 14 (14q32.12)

Function

The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210), which is believed to be important in the developing skeleton (MedlinePlus Genetics).

Database Links

GeneCards: TRIP11

MedlinePlus Genetics: TRIP11

NCBI Gene: 9321

OMIM: 604505

UniprotKB/Swiss-Prot: Q15643

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 TRIP11

Inheritance Pattern Autosomal recessive

Position (hg19) chr14:g.92472282C>A & g.92469762C>A

Transcript NM_004239.3

DNA Change c.2038G>T & c.4557+1G>T

Protein Change p.Glu680Ter & N/A

Contact Us

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