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.

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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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
ETFDH	Autosomal recessive	chr4:g.159624609T>C & chr4:g.159614291C>T	NM_004453.4	c.1151T>C & c.685-2358C>T	p.Leu384Pro & N/A

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