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 (Genetics Home Reference).

Database Links

GeneCards: GC14M091965

Genetics Home Reference: 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 Chr14:92472282 & Chr14:92469762
Transcript NM_004239
DNA Change c.2038G>T & c.4557+1G>T
Protein Change p.E680X & intronic
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