KEGG   VARIANT: 64837v1
Entry
64837v1                      Variant                               
Name
KLC2 mutation
Type
Loss of function
Gene
KLC2  kinesin light chain 2 isoform 1 [KO:K10407]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611729
Network
nt06541  Cytoskeleton in neurons
Disease
H02114  Spastic paraplegia, optic atrophy, and neuropathy
Reference
PMID:26385635
  Authors
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olavio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S
  Title
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
  Journal
Hum Mol Genet 24:6877-85 (2015)
DOI:10.1093/hmg/ddv388
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