TOMM70

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 female, age 8 with global developmental delay, hypotonia, a movement disorder, and brain abnormalities (hypomyelination, cerebellar atrophy) (read full description). 

Date of Report

Jul 09, 2020

Full Name

Translocase of outer mitochondrial membrane 70

Location
Chromosome 3 (3q12.2)
TOMM70-gene.png

Function

The TOMM70 gene codes for a mitochondrial membrane complex protein involved in the transport of molecules into the mitochondria (Alvarez-Dolado et al. 1999).

Database Links

GeneCards: GC03M100364

NCBI Gene: 9868 

OMIM: 606081

UniProtKB/Swiss-Prot: O94826

Clinical Significance

A change in this gene was identified in a UDN participant

Gene TOMM70
Inheritance Pattern de novo
Position Chr3:100084415
Transcript NM_014820.4
DNA Change c.1820C>T
Protein Change p.Thr607Ile
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