SARDH Chromosome 9

Sarcosine dehydrogenase

5 variants 1 Health Risk 4 Trait

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What This Gene Does

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]

Gene Info

Gene Group

Flavoproteins

Locus Type

gene with protein product

Location

9q34.2

Ensembl

ENSG00000123453

Associated Conditions (1)

Sarcosine dehydrogenase deficiency

Key Variants

RS2538570824

Likely pathogenic

Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency

Health Risk

All Variants (5)

RSID	Category	Clinical Significance	Conditions
RS2538570824	Health Risk	Likely pathogenic	Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS140559739	Trait	Affects	Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS149391396	Trait	Affects	Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS149481147	Trait	Affects	Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS397514504	Trait	Affects	Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency