VARIANT: 55605v1
Help
Entry
55605v1 Variant
Name
KIF21A gain-of-function mutation
Type
Gain of function
Gene
KIF21A
kinesin family member 21A [KO:
K24185
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
608283
Network
nt06541
Cytoskeleton in neurons
Disease
H00838
Congenital fibrosis of the extraocular muscles
Reference
PMID:
24656932
Authors
Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC
Title
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Journal
Neuron 82:334-49 (2014)
DOI:
10.1016/j.neuron.2014.02.038
LinkDB
All DBs
DBGET
integrated database retrieval system
