ATP7A, also known as Menkes' protein (MNK), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu (I) across cell membranes. The …

2024年12月24日 · ATP7A (ATPase Copper Transporting Alpha) is a Protein Coding gene. Diseases associated with ATP7A include Menkes Disease and Occipital Horn Syndrome. …

2003年5月9日 · Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders caused by pathogenic variants in the ATP7A, the X-linked …

The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present …

ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders. These are …

2025年2月9日 · Atp7A plays an important role in copper-dependent vascular smooth muscle cell migration and may contribute to neointimal formation after experimental vascular injury. Role …

ATP7A is an active copper transporter encoded by the ATP7A gene, which is located on the X chromosome. In low or normal copper states, the Menkes ATPase is localized to the TGN, …

The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease. ATP7A dysfunction leads to …

HGNC Approved Gene Symbol: ATP7A. Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38) : X:77,910,693-78,050,395 (from NCBI) The ATP7A gene encodes a …

The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions,