abnormal axonal transport Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons (Mammalian Phenotype Ontology, MP_0004768)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004768
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Genes

18 gene mutations causing the abnormal axonal transport phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AATK apoptosis-associated tyrosine kinase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
DOCK3 dedicator of cytokinesis 3
DST dystonin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
GAN gigaxonin
KANSL1 KAT8 regulatory NSL complex subunit 1
KIF17 kinesin family member 17
KIF1B kinesin family member 1B
KLC1 kinesin light chain 1
LAMA2 laminin, alpha 2
MAPT microtubule-associated protein tau
MBP myelin basic protein
MFN2 mitofusin 2
NEFM neurofilament, medium polypeptide
SPAST spastin
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)