ppt1 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (194)

Interactants (22)

XB-GENEPAGE-923069

Gene Symbol: ppt1 Gene Name: palmitoyl-protein thioesterase 1

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: ppt1 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (28 sources): Abnormality of metabolism/homeostasis, Ataxia, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depression, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Hypotonia, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Optic atrophy, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Secondary microcephaly, Seizure, Sleep disturbance, Spasticity, Undetectable electroretinogram [+]
Mouse (34 sources): Purkinje cell degeneration, abnormal aggression-related behavior, abnormal cerebral cortex morphology, abnormal cytokine level, abnormal kidney morphology, abnormal microglial cell activation, abnormal podocyte morphology, abnormal retina cone bipolar cell morphology, abnormal retina neuronal layer morphology, abnormal retina rod bipolar cell morphology, abnormal visual cortex morphology, decreased brain size, decreased brain weight, decreased exploration in new environment, decreased grooming behavior, decreased retina cone cell number, decreased retina inner nuclear layer thickness, decreased retina photoreceptor cell number, decreased total retina thickness, hindlimb paralysis, hippocampal neuron degeneration, limb grasping, lipofuscinosis, loss of GABAergic neurons, loss of cortex neurons, microgliosis, premature death, retina deposits, retina ganglion cell degeneration, retina gliosis, retina photoreceptor degeneration, thick neurocranium, thin cerebral cortex, thin retina outer nuclear layer [+]
View all ortholog results at Monarch