Nakajima H, Noguchi T, Yamasaki T, Kono N, Tanaka T, Tarui S
Second Department of Internal Medicine, Osaka University Medical School, Japan.
FEBS Lett. 1987 Oct 19;223(1):113-6. doi: 10.1016/0014-5793(87)80519-7.
Three overlapping cDNA clones for human muscle phosphofructokinase (HMPFK) covering the complete coding sequence were isolated. The sequence included a poly(A) tail, a 399 bp 3'-untranslated region, a 2337 bp coding region for 779 amino acid residues and a part of the 5'-untranslated region. Homologies between HMPFK and rabbit muscle phosphofructokinase (RMPFK) were 96% of the amino acids and 89% of the nucleotides in the coding region. Like RMPFK, HMPFK also possessed the internal homology between C- and N-halves in its primary structure. Cloning of HMPFK cDNA will help to identify the molecular defect in patients with glycogenosis type VII (HMPFK deficiency).
分离出了三个覆盖人肌肉磷酸果糖激酶（HMPFK）完整编码序列的重叠cDNA克隆。该序列包括一个聚腺苷酸尾、一个399bp的3'-非翻译区、一个编码779个氨基酸残基的2337bp编码区以及部分5'-非翻译区。HMPFK与兔肌肉磷酸果糖激酶（RMPFK）在编码区的氨基酸同源性为96%，核苷酸同源性为89%。与RMPFK一样，HMPFK在其一级结构的C端和N端之间也具有内部同源性。HMPFK cDNA的克隆将有助于鉴定糖原贮积病VII型（HMPFK缺乏症）患者的分子缺陷。
