HHAT G278V不棕榈酰化Hh-Np
中文名称
通路描述
HHAT中G278V缺失功能突变导致Hh配体棕榈酰化能力丧失，与综合征性46,XY性发育障碍相关，该疾病导致睾丸发育不良（Callier et al, 2014）。
英文描述
HHAT G278V doesn't palmitoylate Hh-Np A loss-of-function mutation in HHAT that abrogates palmitoylation of Hh ligand is associated with Syndromic 46, XY Disorder of Sex Development, which results in testis dysgenesis (Callier et al, 2014).
所含基因
3 个基因