gene 959 words KG: ATP7A 2026-03-24
kind:genesection:genesstate:published
Contents

ATP7A

🧬 Gene Info
Gene SymbolATP7A
Full NameCopper-Transport ATPase
ChromosomeXq21.1
Functionis an important component in the neurobiology of neurodegenerative diseases.
Primary Expressionmost tissues except the liver, making it the primary copper transporter for extrahepatic copper metabolism
Molecular Weight163 kDa
Amino Acids1500 aa
UniProt ID[Q9Y5K9](https://www.uniprot.org/uniprot/Q9Y5K9)
Ensembl IDENSG00000136939
OMIM300011
GeneCardsATP7A
Human Protein AtlasATP7A
8 Transmembrane HelicesForm the copper translocation pore
Copper Binding Sites6 N-terminal CXXC motifs for copper binding
Gate RegionRegulates access to the transport channel
Associated DiseasesMenkes disease, developmental delay, neurodegeneration
InteractionsVCP, P53, , FDX1, AND, CP
KG Connections51 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph