Occhiodoro T, Beckmann K R, Morris C P, Hopwood J J
Department of Chemical Pathology, Adelaide Medical Centre for Women and Children, South Australia.
Biochem Biophys Res Commun. 1989 Oct 16;164(1):439-45. doi: 10.1016/0006-291x(89)91739-7.
The human lysosomal storage disorder fucosidosis results from the deficiency of alpha-L-fucosidase, a lysosomal enzyme essential for the catabolism of oligosaccharides containing alpha-L-fucosides. cDNA clones coding for human alpha-L-fucosidase have been isolated from lambda gt10 and lambda gt11 cDNA libraries derived from human liver, placenta and colon. Compilation of cDNA sequences results in a nucleotide sequence of 2053 base pairs encoding alpha-L-fucosidase. The sequence contains an open reading frame of 461 amino acids beginning with the first in-frame methionine and includes 439 amino acids which comprise the mature protein in addition to a hydrophobic signal peptide sequence of 22 amino acids.
人类溶酶体贮积症岩藻糖苷贮积症是由于α-L-岩藻糖苷酶缺乏所致，α-L-岩藻糖苷酶是一种溶酶体酶，对含α-L-岩藻糖苷的寡糖分解代谢至关重要。编码人类α-L-岩藻糖苷酶的cDNA克隆已从源自人肝脏、胎盘和结肠的λgt10和λgt11 cDNA文库中分离出来。cDNA序列的汇编产生了一个2053个碱基对的核苷酸序列，编码α-L-岩藻糖苷酶。该序列包含一个由461个氨基酸组成的开放阅读框，从第一个符合读码框的甲硫氨酸开始，除了一个22个氨基酸的疏水信号肽序列外，还包括439个氨基酸，这些氨基酸构成了成熟蛋白。
