Article
A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility.
Proceedings of the National Academy of Sciences of the United States of America - 21 Jan 2014
Takasaki Nobuyoshi, Tachibana Kouichi, Ogasawara Satoshi, Matsuzaki Hideki, Hagiuda Jun, Ishikawa Hiromichi, Mochida Keiji, Inoue Kimiko, Ogonuki Narumi, Ogura Atsuo, Noce Toshiaki, Ito Chizuru, Toshimori Kiyotaka, Narimatsu Hisashi
Abstract excerpt
For normal fertilization in mammals, it is important that functionally mature sperm are motile and have a fully formed acrosome. The glycosyltransferase-like gene, human polypeptide N-acetylgalactosaminyltransferase-like protein 5 (GALNTL5), belongs to the polypeptide N-acetylgalactosamine-transferase (pp-GalNAc-T) gene family because of its conserved glycosyltransferase domains, but it uniquely truncates the...
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