abnormal synaptic vesicle recycling Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles (Mammalian Phenotype Ontology, MP_0004770)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004770
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Genes

13 gene mutations causing the abnormal synaptic vesicle recycling phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AMPH amphiphysin
CALY calcyon neuron-specific vesicular protein
CC2D1A coiled-coil and C2 domain containing 1A
DBNL drebrin-like
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM1 dynamin 1
ITSN1 intersectin 1 (SH3 domain protein)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
STON2 stonin 2
STX1A syntaxin 1A (brain)
STX1B syntaxin 1B
SYN1 synapsin I
UNC13A unc-13 homolog A (C. elegans)