rs773721888
This variant is located in the SARDH gene.
▶ClinVar annotation
About SARDH
This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
View all SARDH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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