PNPO

Gene Name		pyridoxamine 5-phosphate oxidase
Image
Gene Ontology Annotations	Cellular Component	Nucleoplasm Cytoplasm Cytosol Extracellular Vesicular Exosome
	Molecular Function	Pyridoxamine-phosphate Oxidase Activity FMN Binding
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Pyridoxine Biosynthetic Process Vitamin B6 Metabolic Process Pyridoxal Phosphate Biosynthetic Process Small Molecule Metabolic Process Oxidation-reduction Process
Pathways		Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective GIF causes intrinsic factor deficiency Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective MMAA causes methylmalonic aciduria type cblA Defective CUBN causes hereditary megaloblastic anemia 1 Defective AMN causes hereditary megaloblastic anemia 1 Vitamins B6 activation to pyridoxal phosphate Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Defects in vitamin and cofactor metabolism Defects in cobalamin (B12) metabolism
Drugs		Pyridoxal Phosphate Riboflavin Monophosphate Beta-Mercaptoethanol
Diseases
GWAS		Epilepsy (generalized) ( 22949513)
Protein-protein Interactions		1 interactors: APP
Entrez ID		55163
HPRD ID		04476
Ensembl ID
Uniprot IDs		B4E0V0 B4E152 B4E1D7 Q9NVS9
PDB IDs		1NRG 3HY8
Enriched GO Terms of Interacting Partners?		Synaptic Growth At Neuromuscular Junction Collateral Sprouting In Absence Of Injury Collateral Sprouting Axon Midline Choice Point Recognition Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Axon Choice Point Recognition Neuron Remodeling Cellular Copper Ion Homeostasis Copper Ion Homeostasis Suckling Behavior Positive Regulation Of G2/M Transition Of Mitotic Cell Cycle Neuron Maturation MRNA Polyadenylation Regulation Of Epidermal Growth Factor-activated Receptor Activity Mating Behavior Endoplasmic Reticulum Calcium Ion Homeostasis Neuron Recognition RNA Polyadenylation Nucleotide-binding Domain, Leucine Rich Repeat Containing Receptor Signaling Pathway Ionotropic Glutamate Receptor Signaling Pathway Regulation Of G2/M Transition Of Mitotic Cell Cycle Regulation Of Cell Cycle G2/M Phase Transition Axon Cargo Transport Mating Neuromuscular Junction Development Positive Regulation Of Mitotic Cell Cycle Phase Transition Positive Regulation Of Cell Cycle Phase Transition Neuron Apoptotic Process Regulation Of Protein Tyrosine Kinase Activity Visual Learning Glutamate Receptor Signaling Pathway Visual Behavior Neuron Death Platelet Degranulation Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Neuromuscular Process Controlling Balance Synapse Assembly MRNA 3'-end Processing Regulation Of ERBB Signaling Pathway Associative Learning Developmental Cell Growth Regulation Of Synapse Structure Or Activity Feeding Behavior Regulation Of Multicellular Organism Growth RNA 3'-end Processing Cholesterol Metabolic Process Adult Locomotory Behavior Positive Regulation Of Mitotic Cell Cycle Regulation Of Receptor Activity Cell Recognition
Tagcloud ?		15q11 16p11 1q13 2q21 acgh adsl alg13 arx cask duplication encephalopathy epileptic hybridisation infantile informative intolerant maternally neurodevelopmental novo pointing probands q22 spasms stxbp1 tetrasomy trios unexplained wes xp11