威尔逊氏病基因是一种假定的铜转运P型ATP酶，与门克斯基因相似。
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
作者信息
Bull P C, Thomas G R, Rommens J M, Forbes J R, Cox D W
机构信息
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Nat Genet. 1993 Dec;5(4):327-37. doi: 10.1038/ng1293-327.
Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to chromosome 13 q14.3. On yeast artificial chromosomes from this region we have identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease. We show that this sequence forms part of a P-type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy metal transporters. The gene, expressed in liver and kidney, lies within a 300 kb region likely to include the WD locus. Two WD patients were found to be homozygous for a seven base deletion within the coding region of Wc1. Wc1 is proposed as the gene for WD.
威尔逊病（WD）是一种常染色体隐性铜转运障碍疾病，会导致铜在肝脏和大脑中蓄积并产生毒性。该致病基因（WD）已被定位于13号染色体q14.3区域。在该区域的酵母人工染色体上，我们鉴定出了一段序列，它与在门克斯病中出现缺陷的假定ATP酶基因（MNK）的推测性铜结合区域的编码序列相似。我们发现这段序列是一个P型ATP酶基因（此处称为Wc1）的一部分，该基因与MNK非常相似，有六个推测性金属结合区域，类似于在原核重金属转运蛋白中发现的那些区域。该基因在肝脏和肾脏中表达，位于一个可能包含WD基因座的300 kb区域内。在两名WD患者中发现，他们在Wc1编码区域内存在一个7个碱基的缺失，且为纯合子。因此，Wc1被认为是WD的致病基因。
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