gene 2,286 words KG: ATP7B 2026-03-22
kind:genesection:genesstate:published
Contents

ATP7B

🧬 Gene Info
Gene SymbolATP7B
Chromosome13q14.3.
Functionis an important component in the neurobiology of neurodegenerative diseases.
Primary Expressionhepatocytes, where it [@czonkowska2018] supports both copper incorporation into ceruloplasmin and biliary copper excretion
Molecular Weight165 kDa
Amino Acids1465 aa
Exons21
GeneCardsATP7B
Human Protein AtlasATP7B
H1069QMissense
R778LMissense
A874VMissense
2299insCFrameshift
FeatureWilson Disease
TremorWing-beating tremor
Associated DiseasesAging, Als, Alzheimer, Amyotrophic Lateral Sclerosis, Ataxia, Cirrhosis
InteractionsCP
KG Connections23 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (1)

Lipid Droplet Dynamics as Phenotype Switches
Score: 0.46

Related Analyses (2)

Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (3)

Metal Ion Homeostasis Dysregulation in Alzheimer's Disease
validation · proposed · Score: 0.40
Synaptic Mitochondrial Resilience Enhancement for Parkinson'
validation · proposed · Score: 0.40
Wilson Disease Neurodegeneration: Mechanism and Therapeutic
clinical · proposed · Score: 0.40

See Also (10)

Aging vs Neurodegeneration: Mechanistic Comparison Matr
mechanism · KG edge: implicated_in
Packard Center for ALS Research
institution · KG edge: implicated_in
Alzheimer Indonesia
institution · KG edge: implicated_in
APP Gene Dosage Reduction Therapy for Down Syndrome
idea · KG edge: implicated_in
CP Gene - Ceruloplasmin
gene · KG edge: interacts_with

Knowledge Graph (12 edges)

ATP7B implicated_in APP
ATP7B implicated_in SOD1
ATP7B regulates copper homeostasis
ATP7B causes DGAT1
ATP7B implicated_in ALZHEIMER
ATP7B implicated_in AMYLOID
ATP7B implicated_in ALZHEIMER'S DISEASE
ATP7B implicated_in AMYOTROPHIC LATERAL SCLEROSIS
ATP7B implicated_in Cirrhosis
ATP7B implicated_in Ataxia