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NEDCASB
Chr 12ARserine hydroxymethyltransferase 2
Also known as: GLYA, HEL-S-51e, NEDCASB, SHMT, mSHMT
This gene encodes the mitochondrial form of serine hydroxymethyltransferase, a pyridoxal phosphate-dependent enzyme that catalyzes the conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate and serves as the primary source of intracellular glycine synthesis. Biallelic mutations cause an autosomal recessive neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. This multisystem disorder affects both the central nervous system and cardiac function, reflecting the critical role of glycine metabolism in cellular development and function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDCASB?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDCASB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools