基因产物：铜转运蛋白α链（属于P型铜转运ATP酶）。

蛋白功能：在铜跨膜转运中发挥重要作用（和ATP7B（导致肝豆状核变性的一个基因）表达位置不同，ATP7A主要在肠道、肾脏、脑、心脏、肺部等表达，但在肝脏没有）[1]。

相关疾病： Menkes病 （XLR）[2]；枕角综合征（也有叫做极轻型Menkes病）（XLR）[3]；X连锁远端脊髓性肌萎缩症3型（ATP7A相关远端运动神经病）（XLR）[4]； 婴儿癫痫伴游走性局灶性发作 [5]。

临床研究总结：PubMed数据库（PMID:  20301586 (GeneReviews) ）。  


参考文献

1. Petris, M.J., D. Strausak, and J.F. Mercer, The Menkes copper transporter is required for the activation of tyrosinase. Hum Mol Genet, 2000. 9(19): p. 2845-51.
2. Kaler, S.G., et al., Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. Ann Neurol, 2009. 65(1): p. 108-13.
3. Tang, J., et al., Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med, 2006. 8(11): p. 711-8.
4. Kennerson, M.L., et al., Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet, 2010. 86(3): p. 343-52.
5. Liwen Wu., et al., Epilepsy of Infancy With Migrating Focal Seizures (EIMFS): Expansion of Clinical Phenotypic And Genotypic Spectra. Scientific Reports, 2021.12 (under review, for medical professional reference only).