- 作者: Shwu-Huey Liawa and Lee-Ming Chuangb
- 中文摘要: Wilson disease is an autosomal recessive disorder of copper metabolism, and the defective gene codes for a P-type Cu2+-ATPase. Sequence comparison revealed that the Cu2+-ATPases were very distinct from the Ca2+-, Na+-, H+-, and K+-ATPases, which however, shared significant similarity to each other. The major difference may be due to the difference in metal ligand preference. Some novel conserved motifs in the Wilson disease protein were also identified, including a putative Walker A motif (GCGIGCKV, residues 1099-1106), and a Walker B motif (GDGVND, residues 1266-1271) for the cofactor ATP binding and hydrolysis, a unique KAPIQ motif (residues 910-914) in the transduction domain, and some motifs in the transmembrane segments probably for the substrate specificity. Combining with the previous genetic and biochemical data, some conserved residues could be assigned for possible functions. This information should provide a guide for designing future studies of structure-function relationships in the Wilson disease gene. Sequence analysis is also useful in distinguishing whether the mutant residues are missense or polymorphism, such as T977M was identified as a missense mutation because only small amino acid residues appear at this position.
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