SHMT2 Chromosome 12
Serine hydroxymethyltransferase 2
Upload your DNA to see your personal genotypes for variants in SHMT2.
What This Gene Does
This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Serine hydroxymethyltransferase family
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000182199
Associated Conditions (5)
Neurodevelopmental disorder with cardiomyopathy
spasticity
and brain abnormalities
SHMT2-related disorder
Neurodevelopmental disorder
Key Variants
RS766445638
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Health Risk
RS2037432429
Likely pathogenic
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Health Risk
RS2037465152
Likely pathogenic
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Health Risk
RS769908186
Likely pathogenic
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766445638 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |
| RS2037432429 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |
| RS2037465152 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |
| RS769908186 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |