Mitochondrial serine hydroxymethyltransferase deficiency

(SHMT2 deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- SHMT2 / serine hydroxymethyltransferase 2
  12q13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Serine hydroxymethyltransferase, mitochondrial
Pathway
- Glycine and serine metabolism
Disease group(s)
- 1.6 Disorders of glycine and serine metabolism