KEGG   VARIANT: 23499v1
Entry
23499v1                      Variant                               
Name
MACF1 mutation
Type
Loss of function
Gene
MACF1  microtubule actin crosslinking factor 1 [KO:K19827]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608271
Network
nt06541  Cytoskeleton in neurons
Disease
H00268  Lissencephaly
Reference
  Authors
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, Engle EC, Verheijen FW, Doherty D, Mancini GMS
  Title
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
  Journal
Am J Hum Genet 103:1009-1021 (2018)
DOI:10.1016/j.ajhg.2018.10.019
LinkDB

DBGET integrated database retrieval system