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 ATP7A protein is a transmembrane protein and is expressed in the intestine and all …

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. Among its related pathways are Cellular responses to stimuli and Innate Immune System.

2022年12月19日 · Menkes病（又名卷发综合征MD）是一种X连锁隐性疾病，影响铜代谢，由ATP7A基因突变引起。肠道中功能性ATP7A的缺失导致铜向血液中的流出减少、肠细胞中Cu的积累以及严重的全身性铜缺乏。

ATP7a是负责铜离子转运的关键蛋白，位于X染色体上，具有金属结合和ATP酶活性，维持铜离子平衡，对生物体生理功能至关重要。 其基因突变与门克斯病等多种遗传性疾病相关。 铜离子转运ATP酶α肽（ATP7a）是一种在生物体内负责铜离子转运的关键蛋白质，ATP7A基因的全称为ATP酶，Cu++转运，α肽（Menkes综合征），位于X染色体上（Xq13.2-q13.3），全长140kb，包含23个外显子。 具有6个氨基末端金属结合结构域（HMBD1-6），一个由8个跨膜螺旋（TM1 …

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 gene that encodes a copper-transporting ATPase. Classic Menkes disease typically presents after a six- to 12-week period of good health following a normal pregnancy and birth.

2025年2月9日 · ATP7A expression is regulated by retinoic acid receptor beta and it has effects on intracellular copper levels, revealing a link between the anticancer action of retinoids and copper metabolism. The same missense mutation were found in the second transmembrane segment of ATP7A in three Menkes disease patients.

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 in excessive amounts. The ATP7A protein is found throughout the body, except in liver cells.

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 rare diseases and their genetic epidemiology of the diseases is unknown.

该基因编码一种跨膜蛋白，该蛋白在跨膜铜转运中发挥作用。 该蛋白质定位于反式高尔基体网络，预计在该网络中为分泌途径中的铜依赖性酶提供铜。 它在细胞外铜升高的条件下重新定位到质膜，并在铜从细胞流出时发挥作用。 该基因的突变与 Menkes 病、X 连锁远端脊髓性肌萎缩症和枕角综合征有关。 已经观察到可变剪接的转录物变体。 [RefSeq 提供，2013 年 8 月] This gene encodes a transmembrane protein that functions in copper transport across membranes.

2011年1月10日 · Involvement of ATP7A in axonal outgrowth, synapse integrity and neuronal activation underscores the fundamental importance of copper metabolism to neurological function. Defects in ATP7A cause...