Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
棕榈酰转移酶 HHAT 的功能丧失突变会阻碍 Hedgehog 蛋白的棕榈酰化和信号传导，从而导致 46,XY 性发育综合征
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1004340
Callier Patrick, Calvel Pierre, Matevossian Armine, Makrythanasis Periklis, Bernard Pascal, Kurosaka Hiroshi, Vannier Anne, Thauvin-Robinet Christel, Borel Christelle, Mazaud-Guittot Séverine, Rolland Antoine, Desdoits-Lethimonier Christèle, Guipponi Michel, Zimmermann Céline, Stévant Isabelle, Kuhne Françoise, Conne Béatrice, Santoni Federico, Lambert Sandy, Huet Frederic, Mugneret Francine, Jaruzelska Jadwiga, Faivre Laurence, Wilhelm Dagmar, Jégou Bernard, Trainor Paul A, Resh Marilyn D, Antonarakis Stylianos E, Nef Serge
