U.S. flag

An official website of the United States government

GTR Home > Genes

ETFDH electron transfer flavoprotein dehydrogenase

Gene ID: 2110, updated on 23-Nov-2023
Gene type: protein coding
Also known as: MADD; ETFQO


This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

Associated conditions

See all available tests in GTR for this gene

A genome-wide perspective of genetic variation in human metabolism.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Multiple acyl-CoA dehydrogenase deficiencySee labs

Genomic context

Chromosome: 4; NC_000004.12 (158672296..158709623)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.