ETFDH

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 34, with weakness and pain, fatigue, exercise intolerance, and severe episodes of weakness, dizziness, and paralysis (read full description).

Date of Report

Apr 17, 2026

Full Name

Electron transfer flavoprotein dehydrogenase

Location

4q32.1

Function

The ETFDH gene codes for a component of the mitochondrial electron transfer system and is essential for electron transfer in the main respiratory chain (NCBI).

Database Links

GeneCards: ETFDH gene

NCBI Gene: 2110

OMIM: 231675

UniProtKB/Swiss-Prot: Q16134

Clinical Significance

Changes in this gene were identified in a UDN participant.

Gene ETFDH

Inheritance Pattern Autosomal recessive

Position (hg19) chr4:g.159624609T>C & chr4:g.159614291C>T

Transcript NM_004453.4

DNA Change c.1151T>C & c.685-2358C>T

Protein Change p.Leu384Pro & N/A

Contact Us

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