KEGG VARIANT: 6472v1

VARIANT: 6472v1

Entry

6472v1                      Variant

Name

SHMT2 deficiency

Type

Loss of function

Gene

SHMT2 serine hydroxymethyltransferase 2 [KO:K00600]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 138450

Network

nt06033 Glycine, serine and arginine metabolism

Disease

H02918

Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

Reference

PMID:33015733

Authors

Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A

Title

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

Journal

Acta Neuropathol 140:971-975 (2020)
DOI:10.1007/s00401-020-02223-w

LinkDB

DBGET integrated database retrieval system