Disorders


 

Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3


Synonym(s): Mitochondrial Complex V (ATP Synthase) Deficiency, ATP5E Type 3

 

OMIM

GeneLocusProtein
ATP5E20q13.3ATP synthase subunit epsilon

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
GeneDx - Gaithersburg, MD, USA  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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