KEGG   VARIANT: 286053v1
Entry
286053v1                      Variant                              
Name
NSMCE2 mutation
Type
Loss of function
Gene
NSMCE2  NSE2 SUMO ligase component of SMC5/6 complex [KO:K22756]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 617246
Network
nt06506  Double-strand break repair
Disease
H00992  Seckel syndrome
Reference
PMID:25105364
  Authors
Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R
  Title
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
  Journal
J Clin Invest 124:4028-38 (2014)
DOI:10.1172/JCI73264
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